Canonical Allele Identifier: CA375311108

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393842A>T (hg19) ; chr9:g.131518455A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518455A>T , CM000671.2:g.131518455A>T	GRCh38
NC_000009.11:g.134393842A>T , CM000671.1:g.134393842A>T	GRCh37
NC_000009.10:g.133383663A>T	NCBI36
NG_008896.1:g.20554A>T
NG_008896.2:g.20554A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1121A>T	ENSP00000343034.7:p.Asn374Ile
ENST00000404875.7:n.1823A>T
ENST00000423007.6:c.1340A>T	ENSP00000404119.2:p.Asn447Ile
ENST00000677295.2:c.*1627A>T	ENSP00000504346.2:n.*1627A>T
ENST00000678264.2:c.*1466A>T	ENSP00000503157.2:n.*1466A>T
ENST00000682070.1:n.1748A>T
ENST00000682535.1:n.55A>T
ENST00000682539.1:c.221A>T
ENST00000682813.1:n.1548A>T
ENST00000683110.1:n.11A>T
ENST00000683392.1:n.4030A>T
ENST00000683712.1:n.1688A>T
ENST00000683900.1:n.3183A>T
ENST00000684062.1:n.1949A>T
ENST00000684579.1:n.3129A>T
ENST00000684679.1:n.510A>T
ENST00000341012.12:c.1121A>T	ENSP00000343034.7:p.Asn374Ile
ENST00000372220.5:c.152A>T	ENSP00000361294.5:p.Asn51Ile
ENST00000372228.9:c.1349A>T	ENSP00000361302.3:p.Asn450Ile
ENST00000402686.8:c.1283A>T MANE Select	ENSP00000385797.4:p.Asn428Ile
ENST00000676640.1:c.1283A>T	ENSP00000503281.1:p.Asn428Ile
ENST00000676803.1:c.458A>T	ENSP00000503093.1:p.Asn153Ile
ENST00000676835.1:c.*498A>T	ENSP00000502911.1:n.*498A>T
ENST00000677029.1:c.827A>T	ENSP00000502936.1:p.Asn276Ile
ENST00000677099.1:c.*993A>T	ENSP00000504553.1:n.*993A>T
ENST00000677216.1:c.932A>T	ENSP00000503772.1:p.Asn311Ile
ENST00000677221.1:n.308A>T
ENST00000677295.1:c.*660A>T	ENSP00000504346.1:n.*660A>T
ENST00000677444.1:c.1089A>T
ENST00000677586.1:n.764A>T
ENST00000677626.1:c.932A>T	ENSP00000503552.1:p.Asn311Ile
ENST00000677677.1:n.1243A>T
ENST00000677853.1:c.*291A>T	ENSP00000503488.1:n.*291A>T
ENST00000677944.1:c.545A>T
ENST00000677983.1:n.372A>T
ENST00000678202.1:n.303A>T
ENST00000678264.1:c.*660A>T	ENSP00000503157.1:n.*660A>T
ENST00000678303.1:c.1193A>T	ENSP00000503696.1:p.Asn398Ile
ENST00000678366.1:c.*1532A>T	ENSP00000504353.1:n.*1532A>T
ENST00000678546.1:c.*1228A>T	ENSP00000503062.1:n.*1228A>T
ENST00000678548.1:c.*1355A>T	ENSP00000503934.1:n.*1355A>T
ENST00000678626.1:n.980A>T
ENST00000678733.1:c.364A>T
ENST00000678739.1:c.*1609A>T	ENSP00000503806.1:n.*1609A>T
ENST00000678795.1:n.370A>T
ENST00000678833.1:c.*730A>T	ENSP00000503893.1:n.*730A>T
ENST00000678942.1:c.463A>T	ENSP00000504690.1:n.463A>T
ENST00000679023.1:c.1121A>T	ENSP00000503718.1:p.Asn374Ile
ENST00000679076.1:c.902A>T
ENST00000679111.1:c.1283A>T	ENSP00000504257.1:p.Asn428Ile
ENST00000679189.1:c.932A>T	ENSP00000503356.1:p.Asn311Ile
ENST00000341012.11:c.1121A>T	ENSP00000343034.7:p.Asn374Ile
ENST00000372220.4:c.146A>T	ENSP00000361294.4:p.Asn49Ile
ENST00000372228.7:c.1349A>T	ENSP00000361302.3:p.Asn450Ile
ENST00000402686.7:c.1283A>T	ENSP00000385797.3:p.Asn428Ile
ENST00000404875.6:c.932A>T	ENSP00000384531.2:p.Asn311Ile
ENST00000423007.5:c.1283A>T	ENSP00000404119.1:p.Asn428Ile
ENST00000485278.5:n.1838A>T
NM_001077365.1:c.1283A>T	NP_001070833.1:p.Asn428Ile
NM_001077366.1:c.1121A>T	NP_001070834.1:p.Asn374Ile
NM_001136113.1:c.1283A>T	NP_001129585.1:p.Asn428Ile
NM_001136114.1:c.932A>T	NP_001129586.1:p.Asn311Ile
NM_007171.3:c.1349A>T	NP_009102.3:p.Asn450Ile
XM_005272156.1:c.1349A>T	XP_005272213.1:p.Asn450Ile
XM_005272158.1:c.1187A>T	XP_005272215.1:p.Asn396Ile
XM_005272159.1:c.998A>T	XP_005272216.1:p.Asn333Ile
XM_005272162.1:c.152A>T	XP_005272219.1:p.Asn51Ile
XM_006716932.1:c.998A>T	XP_006716995.1:p.Asn333Ile
XM_011518140.1:c.1202A>T	XP_011516442.1:p.Asn401Ile
XM_011518141.1:c.1136A>T	XP_011516443.1:p.Asn379Ile
XM_011518142.1:c.1040A>T	XP_011516444.1:p.Asn347Ile
XM_011518143.1:c.1034A>T	XP_011516445.1:p.Asn345Ile
XM_011518144.1:c.1349A>T	XP_011516446.1:p.Asn450Ile
XM_011518145.1:c.893A>T	XP_011516447.1:p.Asn298Ile
XM_011518146.1:c.1034A>T	XP_011516448.1:p.Asn345Ile
XM_011518147.1:c.221A>T	XP_011516449.1:p.Asn74Ile
XR_929703.1:n.1525A>T
NM_001353193.1:c.1349A>T	NP_001340122.1:p.Asn450Ile
NM_001353194.1:c.1121A>T	NP_001340123.1:p.Asn374Ile
NM_001353195.1:c.932A>T	NP_001340124.1:p.Asn311Ile
NM_001353196.1:c.1193A>T	NP_001340125.1:p.Asn398Ile
NM_001353197.1:c.1187A>T	NP_001340126.1:p.Asn396Ile
NM_001353198.1:c.1187A>T	NP_001340127.1:p.Asn396Ile
NM_001353199.1:c.998A>T	NP_001340128.1:p.Asn333Ile
NM_001353200.1:c.827A>T	NP_001340129.1:p.Asn276Ile
NR_148391.1:n.1333A>T
NR_148392.1:n.1551A>T
NR_148393.1:n.1333A>T
NR_148394.1:n.1226A>T
NR_148395.1:n.1485A>T
NR_148396.1:n.1119A>T
NR_148397.1:n.1383A>T
NR_148398.1:n.1338A>T
NR_148399.1:n.1725A>T
NR_148400.1:n.1324A>T
XM_005272162.3:c.152A>T	XP_005272219.1:p.Asn51Ile
XM_006716932.2:c.998A>T	XP_006716995.1:p.Asn333Ile
XM_011518140.2:c.1202A>T	XP_011516442.1:p.Asn401Ile
XM_011518141.2:c.1136A>T	XP_011516443.1:p.Asn379Ile
XM_011518142.2:c.1040A>T	XP_011516444.1:p.Asn347Ile
XM_011518143.2:c.1034A>T	XP_011516445.1:p.Asn345Ile
XM_011518145.2:c.893A>T	XP_011516447.1:p.Asn298Ile
XM_017014205.2:c.152A>T	XP_016869694.1:p.Asn51Ile
XM_024447380.1:c.152A>T	XP_024303148.1:p.Asn51Ile
XM_024447381.1:c.458A>T	XP_024303149.1:p.Asn153Ile
XM_024447382.1:c.152A>T	XP_024303150.1:p.Asn51Ile
XR_001746160.2:n.1453A>T
XR_001746162.2:n.1519A>T
XR_001746164.1:n.1236A>T
XR_001746166.2:n.1670A>T
NM_001077365.2:c.1283A>T MANE Select	NP_001070833.1:p.Asn428Ile
NM_001077366.2:c.1121A>T	NP_001070834.1:p.Asn374Ile
NM_001136113.2:c.1283A>T	NP_001129585.1:p.Asn428Ile
NM_001136114.2:c.932A>T	NP_001129586.1:p.Asn311Ile
NM_001353193.2:c.1349A>T	NP_001340122.2:p.Asn450Ile
NM_001353194.2:c.1121A>T	NP_001340123.1:p.Asn374Ile
NM_001353195.2:c.932A>T	NP_001340124.1:p.Asn311Ile
NM_001353196.2:c.1193A>T	NP_001340125.1:p.Asn398Ile
NM_001353197.2:c.1187A>T	NP_001340126.2:p.Asn396Ile
NM_001353198.2:c.1187A>T	NP_001340127.2:p.Asn396Ile
NM_001353199.2:c.998A>T	NP_001340128.2:p.Asn333Ile
NM_001353200.2:c.827A>T	NP_001340129.1:p.Asn276Ile
NM_001374689.1:c.1271A>T	NP_001361618.1:p.Asn424Ile
NM_001374690.1:c.1283A>T	NP_001361619.1:p.Asn428Ile
NM_001374691.1:c.932A>T	NP_001361620.1:p.Asn311Ile
NM_001374692.1:c.932A>T	NP_001361621.1:p.Asn311Ile
NM_001374693.1:c.932A>T	NP_001361622.1:p.Asn311Ile
NM_001374695.1:c.893A>T	NP_001361624.1:p.Asn298Ile
NM_007171.4:c.1349A>T	NP_009102.4:p.Asn450Ile
NR_148391.2:n.1317A>T
NR_148392.2:n.1535A>T
NR_148393.2:n.1317A>T
NR_148394.2:n.1210A>T
NR_148395.2:n.1469A>T
NR_148396.2:n.1103A>T
NR_148397.2:n.1367A>T
NR_148398.2:n.1322A>T
NR_148399.2:n.1709A>T
NR_148400.2:n.1308A>T