Canonical Allele Identifier: CA375311048

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393832G>A (hg19) ; chr9:g.131518445G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518445G>A , CM000671.2:g.131518445G>A	GRCh38
NC_000009.11:g.134393832G>A , CM000671.1:g.134393832G>A	GRCh37
NC_000009.10:g.133383653G>A	NCBI36
NG_008896.1:g.20544G>A
NG_008896.2:g.20544G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1111G>A	ENSP00000343034.7:p.Glu371Lys
ENST00000404875.7:n.1813G>A
ENST00000423007.6:c.1330G>A	ENSP00000404119.2:p.Glu444Lys
ENST00000677295.2:c.*1617G>A	ENSP00000504346.2:n.*1617G>A
ENST00000678264.2:c.*1456G>A	ENSP00000503157.2:n.*1456G>A
ENST00000682070.1:n.1738G>A
ENST00000682535.1:n.45G>A
ENST00000682539.1:c.211G>A
ENST00000682813.1:n.1538G>A
ENST00000683110.1:n.1G>A
ENST00000683392.1:n.4020G>A
ENST00000683712.1:n.1678G>A
ENST00000683900.1:n.3173G>A
ENST00000684062.1:n.1939G>A
ENST00000684579.1:n.3119G>A
ENST00000684679.1:n.500G>A
ENST00000341012.12:c.1111G>A	ENSP00000343034.7:p.Glu371Lys
ENST00000372220.5:c.142G>A	ENSP00000361294.5:p.Glu48Lys
ENST00000372228.9:c.1339G>A	ENSP00000361302.3:p.Glu447Lys
ENST00000402686.8:c.1273G>A MANE Select	ENSP00000385797.4:p.Glu425Lys
ENST00000676640.1:c.1273G>A	ENSP00000503281.1:p.Glu425Lys
ENST00000676803.1:c.448G>A	ENSP00000503093.1:p.Glu150Lys
ENST00000676835.1:c.*488G>A	ENSP00000502911.1:n.*488G>A
ENST00000677029.1:c.817G>A	ENSP00000502936.1:p.Glu273Lys
ENST00000677099.1:c.*983G>A	ENSP00000504553.1:n.*983G>A
ENST00000677216.1:c.922G>A	ENSP00000503772.1:p.Glu308Lys
ENST00000677221.1:n.298G>A
ENST00000677295.1:c.*650G>A	ENSP00000504346.1:n.*650G>A
ENST00000677444.1:c.1079G>A
ENST00000677586.1:n.754G>A
ENST00000677626.1:c.922G>A	ENSP00000503552.1:p.Glu308Lys
ENST00000677677.1:n.1233G>A
ENST00000677853.1:c.*281G>A	ENSP00000503488.1:n.*281G>A
ENST00000677944.1:c.535G>A
ENST00000677983.1:n.362G>A
ENST00000678202.1:n.293G>A
ENST00000678264.1:c.*650G>A	ENSP00000503157.1:n.*650G>A
ENST00000678303.1:c.1183G>A	ENSP00000503696.1:p.Glu395Lys
ENST00000678366.1:c.*1522G>A	ENSP00000504353.1:n.*1522G>A
ENST00000678546.1:c.*1218G>A	ENSP00000503062.1:n.*1218G>A
ENST00000678548.1:c.*1345G>A	ENSP00000503934.1:n.*1345G>A
ENST00000678626.1:n.970G>A
ENST00000678733.1:c.354G>A
ENST00000678739.1:c.*1599G>A	ENSP00000503806.1:n.*1599G>A
ENST00000678795.1:n.360G>A
ENST00000678833.1:c.*720G>A	ENSP00000503893.1:n.*720G>A
ENST00000678942.1:c.453G>A	ENSP00000504690.1:n.453G>A
ENST00000679023.1:c.1111G>A	ENSP00000503718.1:p.Glu371Lys
ENST00000679076.1:c.892G>A
ENST00000679111.1:c.1273G>A	ENSP00000504257.1:p.Glu425Lys
ENST00000679189.1:c.922G>A	ENSP00000503356.1:p.Glu308Lys
ENST00000341012.11:c.1111G>A	ENSP00000343034.7:p.Glu371Lys
ENST00000372220.4:c.136G>A	ENSP00000361294.4:p.Glu46Lys
ENST00000372228.7:c.1339G>A	ENSP00000361302.3:p.Glu447Lys
ENST00000402686.7:c.1273G>A	ENSP00000385797.3:p.Glu425Lys
ENST00000404875.6:c.922G>A	ENSP00000384531.2:p.Glu308Lys
ENST00000423007.5:c.1273G>A	ENSP00000404119.1:p.Glu425Lys
ENST00000485278.5:n.1828G>A
NM_001077365.1:c.1273G>A	NP_001070833.1:p.Glu425Lys
NM_001077366.1:c.1111G>A	NP_001070834.1:p.Glu371Lys
NM_001136113.1:c.1273G>A	NP_001129585.1:p.Glu425Lys
NM_001136114.1:c.922G>A	NP_001129586.1:p.Glu308Lys
NM_007171.3:c.1339G>A	NP_009102.3:p.Glu447Lys
XM_005272156.1:c.1339G>A	XP_005272213.1:p.Glu447Lys
XM_005272158.1:c.1177G>A	XP_005272215.1:p.Glu393Lys
XM_005272159.1:c.988G>A	XP_005272216.1:p.Glu330Lys
XM_005272162.1:c.142G>A	XP_005272219.1:p.Glu48Lys
XM_006716932.1:c.988G>A	XP_006716995.1:p.Glu330Lys
XM_011518140.1:c.1192G>A	XP_011516442.1:p.Glu398Lys
XM_011518141.1:c.1126G>A	XP_011516443.1:p.Glu376Lys
XM_011518142.1:c.1030G>A	XP_011516444.1:p.Glu344Lys
XM_011518143.1:c.1024G>A	XP_011516445.1:p.Glu342Lys
XM_011518144.1:c.1339G>A	XP_011516446.1:p.Glu447Lys
XM_011518145.1:c.883G>A	XP_011516447.1:p.Glu295Lys
XM_011518146.1:c.1024G>A	XP_011516448.1:p.Glu342Lys
XM_011518147.1:c.211G>A	XP_011516449.1:p.Glu71Lys
XR_929703.1:n.1515G>A
NM_001353193.1:c.1339G>A	NP_001340122.1:p.Glu447Lys
NM_001353194.1:c.1111G>A	NP_001340123.1:p.Glu371Lys
NM_001353195.1:c.922G>A	NP_001340124.1:p.Glu308Lys
NM_001353196.1:c.1183G>A	NP_001340125.1:p.Glu395Lys
NM_001353197.1:c.1177G>A	NP_001340126.1:p.Glu393Lys
NM_001353198.1:c.1177G>A	NP_001340127.1:p.Glu393Lys
NM_001353199.1:c.988G>A	NP_001340128.1:p.Glu330Lys
NM_001353200.1:c.817G>A	NP_001340129.1:p.Glu273Lys
NR_148391.1:n.1323G>A
NR_148392.1:n.1541G>A
NR_148393.1:n.1323G>A
NR_148394.1:n.1216G>A
NR_148395.1:n.1475G>A
NR_148396.1:n.1109G>A
NR_148397.1:n.1373G>A
NR_148398.1:n.1328G>A
NR_148399.1:n.1715G>A
NR_148400.1:n.1314G>A
XM_005272162.3:c.142G>A	XP_005272219.1:p.Glu48Lys
XM_006716932.2:c.988G>A	XP_006716995.1:p.Glu330Lys
XM_011518140.2:c.1192G>A	XP_011516442.1:p.Glu398Lys
XM_011518141.2:c.1126G>A	XP_011516443.1:p.Glu376Lys
XM_011518142.2:c.1030G>A	XP_011516444.1:p.Glu344Lys
XM_011518143.2:c.1024G>A	XP_011516445.1:p.Glu342Lys
XM_011518145.2:c.883G>A	XP_011516447.1:p.Glu295Lys
XM_017014205.2:c.142G>A	XP_016869694.1:p.Glu48Lys
XM_024447380.1:c.142G>A	XP_024303148.1:p.Glu48Lys
XM_024447381.1:c.448G>A	XP_024303149.1:p.Glu150Lys
XM_024447382.1:c.142G>A	XP_024303150.1:p.Glu48Lys
XR_001746160.2:n.1443G>A
XR_001746162.2:n.1509G>A
XR_001746164.1:n.1226G>A
XR_001746166.2:n.1660G>A
NM_001077365.2:c.1273G>A MANE Select	NP_001070833.1:p.Glu425Lys
NM_001077366.2:c.1111G>A	NP_001070834.1:p.Glu371Lys
NM_001136113.2:c.1273G>A	NP_001129585.1:p.Glu425Lys
NM_001136114.2:c.922G>A	NP_001129586.1:p.Glu308Lys
NM_001353193.2:c.1339G>A	NP_001340122.2:p.Glu447Lys
NM_001353194.2:c.1111G>A	NP_001340123.1:p.Glu371Lys
NM_001353195.2:c.922G>A	NP_001340124.1:p.Glu308Lys
NM_001353196.2:c.1183G>A	NP_001340125.1:p.Glu395Lys
NM_001353197.2:c.1177G>A	NP_001340126.2:p.Glu393Lys
NM_001353198.2:c.1177G>A	NP_001340127.2:p.Glu393Lys
NM_001353199.2:c.988G>A	NP_001340128.2:p.Glu330Lys
NM_001353200.2:c.817G>A	NP_001340129.1:p.Glu273Lys
NM_001374689.1:c.1261G>A	NP_001361618.1:p.Glu421Lys
NM_001374690.1:c.1273G>A	NP_001361619.1:p.Glu425Lys
NM_001374691.1:c.922G>A	NP_001361620.1:p.Glu308Lys
NM_001374692.1:c.922G>A	NP_001361621.1:p.Glu308Lys
NM_001374693.1:c.922G>A	NP_001361622.1:p.Glu308Lys
NM_001374695.1:c.883G>A	NP_001361624.1:p.Glu295Lys
NM_007171.4:c.1339G>A	NP_009102.4:p.Glu447Lys
NR_148391.2:n.1307G>A
NR_148392.2:n.1525G>A
NR_148393.2:n.1307G>A
NR_148394.2:n.1200G>A
NR_148395.2:n.1459G>A
NR_148396.2:n.1093G>A
NR_148397.2:n.1357G>A
NR_148398.2:n.1312G>A
NR_148399.2:n.1699G>A
NR_148400.2:n.1298G>A