Canonical Allele Identifier: CA590754024

Gene: POMT1

Linked Data

• dbSNP Id: rs1320065899
• gnomAD v2: 9-134393794-A-T
• MyVariant Identifiers: chr9:g.134393794A>T (hg19) ; chr9:g.131518407A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518407A>T , CM000671.2:g.131518407A>T	GRCh38
NC_000009.11:g.134393794A>T , CM000671.1:g.134393794A>T	GRCh37
NC_000009.10:g.133383615A>T	NCBI36
NG_008896.1:g.20506A>T
NG_008896.2:g.20506A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1111-38A>T	ENSP00000343034.7:n.1111-38A>T
ENST00000404875.7:n.1813-38A>T
ENST00000423007.6:c.1330-38A>T	ENSP00000404119.2:n.1330-38A>T
ENST00000677295.2:c.*1617-38A>T	ENSP00000504346.2:n.*1617-38A>T
ENST00000678264.2:c.*1456-38A>T	ENSP00000503157.2:n.*1456-38A>T
ENST00000682070.1:n.1738-38A>T
ENST00000682535.1:n.31-24A>T
ENST00000682539.1:c.211-38A>T
ENST00000682813.1:n.1538-38A>T
ENST00000683392.1:n.4020-38A>T
ENST00000683712.1:n.1678-38A>T
ENST00000683900.1:n.3173-38A>T
ENST00000684062.1:n.1939-38A>T
ENST00000684579.1:n.3119-38A>T
ENST00000684679.1:n.500-38A>T
ENST00000341012.12:c.1111-38A>T	ENSP00000343034.7:n.1111-38A>T
ENST00000372220.5:c.142-38A>T	ENSP00000361294.5:n.142-38A>T
ENST00000372228.9:c.1339-38A>T	ENSP00000361302.3:n.1339-38A>T
ENST00000402686.8:c.1273-38A>T MANE Select	ENSP00000385797.4:n.1273-38A>T
ENST00000676640.1:c.1273-38A>T	ENSP00000503281.1:n.1273-38A>T
ENST00000676803.1:c.448-38A>T	ENSP00000503093.1:n.448-38A>T
ENST00000676835.1:c.*488-38A>T	ENSP00000502911.1:n.*488-38A>T
ENST00000677029.1:c.817-38A>T	ENSP00000502936.1:n.817-38A>T
ENST00000677099.1:c.*983-38A>T	ENSP00000504553.1:n.*983-38A>T
ENST00000677216.1:c.922-38A>T	ENSP00000503772.1:n.922-38A>T
ENST00000677221.1:n.298-38A>T
ENST00000677295.1:c.*650-38A>T	ENSP00000504346.1:n.*650-38A>T
ENST00000677444.1:c.1079-38A>T
ENST00000677586.1:n.754-38A>T
ENST00000677626.1:c.922-38A>T	ENSP00000503552.1:n.922-38A>T
ENST00000677677.1:n.1233-38A>T
ENST00000677853.1:c.*281-38A>T	ENSP00000503488.1:n.*281-38A>T
ENST00000677944.1:c.535-38A>T
ENST00000677983.1:n.362-38A>T
ENST00000678202.1:n.293-38A>T
ENST00000678264.1:c.*650-38A>T	ENSP00000503157.1:n.*650-38A>T
ENST00000678303.1:c.1183-38A>T	ENSP00000503696.1:n.1183-38A>T
ENST00000678366.1:c.*1522-38A>T	ENSP00000504353.1:n.*1522-38A>T
ENST00000678546.1:c.*1218-38A>T	ENSP00000503062.1:n.*1218-38A>T
ENST00000678548.1:c.*1345-38A>T	ENSP00000503934.1:n.*1345-38A>T
ENST00000678626.1:n.970-38A>T
ENST00000678733.1:c.354-38A>T
ENST00000678739.1:c.*1599-38A>T	ENSP00000503806.1:n.*1599-38A>T
ENST00000678795.1:n.360-38A>T
ENST00000678833.1:c.*720-38A>T	ENSP00000503893.1:n.*720-38A>T
ENST00000678942.1:c.453-38A>T	ENSP00000504690.1:n.453-38A>T
ENST00000679023.1:c.1111-38A>T	ENSP00000503718.1:n.1111-38A>T
ENST00000679076.1:c.892-38A>T
ENST00000679111.1:c.1273-38A>T	ENSP00000504257.1:n.1273-38A>T
ENST00000679189.1:c.922-38A>T	ENSP00000503356.1:n.922-38A>T
ENST00000341012.11:c.1111-38A>T	ENSP00000343034.7:n.1111-38A>T
ENST00000372220.4:c.136-38A>T	ENSP00000361294.4:n.136-38A>T
ENST00000372228.7:c.1339-38A>T	ENSP00000361302.3:n.1339-38A>T
ENST00000402686.7:c.1273-38A>T	ENSP00000385797.3:n.1273-38A>T
ENST00000404875.6:c.922-38A>T	ENSP00000384531.2:n.922-38A>T
ENST00000423007.5:c.1273-38A>T	ENSP00000404119.1:n.1273-38A>T
ENST00000485278.5:n.1828-38A>T
NM_001077365.1:c.1273-38A>T	NP_001070833.1:n.1273-38A>T
NM_001077366.1:c.1111-38A>T	NP_001070834.1:n.1111-38A>T
NM_001136113.1:c.1273-38A>T	NP_001129585.1:n.1273-38A>T
NM_001136114.1:c.922-38A>T	NP_001129586.1:n.922-38A>T
NM_007171.3:c.1339-38A>T	NP_009102.3:n.1339-38A>T
XM_005272156.1:c.1339-38A>T	XP_005272213.1:n.1339-38A>T
XM_005272158.1:c.1177-38A>T	XP_005272215.1:n.1177-38A>T
XM_005272159.1:c.988-38A>T	XP_005272216.1:n.988-38A>T
XM_005272162.1:c.142-38A>T	XP_005272219.1:n.142-38A>T
XM_006716932.1:c.988-38A>T	XP_006716995.1:n.988-38A>T
XM_011518140.1:c.1192-38A>T	XP_011516442.1:n.1192-38A>T
XM_011518141.1:c.1126-38A>T	XP_011516443.1:n.1126-38A>T
XM_011518142.1:c.1030-38A>T	XP_011516444.1:n.1030-38A>T
XM_011518143.1:c.1024-38A>T	XP_011516445.1:n.1024-38A>T
XM_011518144.1:c.1339-38A>T	XP_011516446.1:n.1339-38A>T
XM_011518145.1:c.883-38A>T	XP_011516447.1:n.883-38A>T
XM_011518146.1:c.1024-38A>T	XP_011516448.1:n.1024-38A>T
XM_011518147.1:c.211-38A>T	XP_011516449.1:n.211-38A>T
XR_929703.1:n.1515-38A>T
NM_001353193.1:c.1339-38A>T	NP_001340122.1:n.1339-38A>T
NM_001353194.1:c.1111-38A>T	NP_001340123.1:n.1111-38A>T
NM_001353195.1:c.922-38A>T	NP_001340124.1:n.922-38A>T
NM_001353196.1:c.1183-38A>T	NP_001340125.1:n.1183-38A>T
NM_001353197.1:c.1177-38A>T	NP_001340126.1:n.1177-38A>T
NM_001353198.1:c.1177-38A>T	NP_001340127.1:n.1177-38A>T
NM_001353199.1:c.988-38A>T	NP_001340128.1:n.988-38A>T
NM_001353200.1:c.817-38A>T	NP_001340129.1:n.817-38A>T
NR_148391.1:n.1323-38A>T
NR_148392.1:n.1541-38A>T
NR_148393.1:n.1323-38A>T
NR_148394.1:n.1216-38A>T
NR_148395.1:n.1475-38A>T
NR_148396.1:n.1109-38A>T
NR_148397.1:n.1373-38A>T
NR_148398.1:n.1328-38A>T
NR_148399.1:n.1715-38A>T
NR_148400.1:n.1314-38A>T
XM_005272162.3:c.142-38A>T	XP_005272219.1:n.142-38A>T
XM_006716932.2:c.988-38A>T	XP_006716995.1:n.988-38A>T
XM_011518140.2:c.1192-38A>T	XP_011516442.1:n.1192-38A>T
XM_011518141.2:c.1126-38A>T	XP_011516443.1:n.1126-38A>T
XM_011518142.2:c.1030-38A>T	XP_011516444.1:n.1030-38A>T
XM_011518143.2:c.1024-38A>T	XP_011516445.1:n.1024-38A>T
XM_011518145.2:c.883-38A>T	XP_011516447.1:n.883-38A>T
XM_017014205.2:c.142-38A>T	XP_016869694.1:n.142-38A>T
XM_024447380.1:c.142-38A>T	XP_024303148.1:n.142-38A>T
XM_024447381.1:c.448-38A>T	XP_024303149.1:n.448-38A>T
XM_024447382.1:c.142-38A>T	XP_024303150.1:n.142-38A>T
XR_001746160.2:n.1443-38A>T
XR_001746162.2:n.1509-38A>T
XR_001746164.1:n.1226-38A>T
XR_001746166.2:n.1660-38A>T
XR_930402.2:n.32T>A
NM_001077365.2:c.1273-38A>T MANE Select	NP_001070833.1:n.1273-38A>T
NM_001077366.2:c.1111-38A>T	NP_001070834.1:n.1111-38A>T
NM_001136113.2:c.1273-38A>T	NP_001129585.1:n.1273-38A>T
NM_001136114.2:c.922-38A>T	NP_001129586.1:n.922-38A>T
NM_001353193.2:c.1339-38A>T	NP_001340122.2:n.1339-38A>T
NM_001353194.2:c.1111-38A>T	NP_001340123.1:n.1111-38A>T
NM_001353195.2:c.922-38A>T	NP_001340124.1:n.922-38A>T
NM_001353196.2:c.1183-38A>T	NP_001340125.1:n.1183-38A>T
NM_001353197.2:c.1177-38A>T	NP_001340126.2:n.1177-38A>T
NM_001353198.2:c.1177-38A>T	NP_001340127.2:n.1177-38A>T
NM_001353199.2:c.988-38A>T	NP_001340128.2:n.988-38A>T
NM_001353200.2:c.817-38A>T	NP_001340129.1:n.817-38A>T
NM_001374689.1:c.1261-38A>T	NP_001361618.1:n.1261-38A>T
NM_001374690.1:c.1273-38A>T	NP_001361619.1:n.1273-38A>T
NM_001374691.1:c.922-38A>T	NP_001361620.1:n.922-38A>T
NM_001374692.1:c.922-38A>T	NP_001361621.1:n.922-38A>T
NM_001374693.1:c.922-38A>T	NP_001361622.1:n.922-38A>T
NM_001374695.1:c.883-38A>T	NP_001361624.1:n.883-38A>T
NM_007171.4:c.1339-38A>T	NP_009102.4:n.1339-38A>T
NR_148391.2:n.1307-38A>T
NR_148392.2:n.1525-38A>T
NR_148393.2:n.1307-38A>T
NR_148394.2:n.1200-38A>T
NR_148395.2:n.1459-38A>T
NR_148396.2:n.1093-38A>T
NR_148397.2:n.1357-38A>T
NR_148398.2:n.1312-38A>T
NR_148399.2:n.1699-38A>T
NR_148400.2:n.1298-38A>T