Canonical Allele Identifier: CA375309079

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134388677G>T (hg19) ; chr9:g.131513290G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131513290G>T , CM000671.2:g.131513290G>T	GRCh38
NC_000009.11:g.134388677G>T , CM000671.1:g.134388677G>T	GRCh37
NC_000009.10:g.133378498G>T	NCBI36
NG_008896.1:g.15389G>T
NG_008896.2:g.15389G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.972G>T	ENSP00000343034.7:p.Met324Ile
ENST00000404875.7:n.1674G>T
ENST00000423007.6:c.1191G>T	ENSP00000404119.2:p.Met397Ile
ENST00000677295.2:c.*1478G>T	ENSP00000504346.2:n.*1478G>T
ENST00000678264.2:c.*1317G>T	ENSP00000503157.2:n.*1317G>T
ENST00000682070.1:n.1599G>T
ENST00000682813.1:n.1399G>T
ENST00000683392.1:n.3881G>T
ENST00000683712.1:n.1539G>T
ENST00000683900.1:n.3034G>T
ENST00000684062.1:n.1800G>T
ENST00000684579.1:n.2980G>T
ENST00000341012.12:c.972G>T	ENSP00000343034.7:p.Met324Ile
ENST00000372220.5:c.3G>T	ENSP00000361294.5:p.Met1Ile
ENST00000372228.9:c.1200G>T	ENSP00000361302.3:p.Met400Ile
ENST00000402686.8:c.1134G>T MANE Select	ENSP00000385797.4:p.Met378Ile
ENST00000676640.1:c.1134G>T	ENSP00000503281.1:p.Met378Ile
ENST00000676803.1:c.309G>T	ENSP00000503093.1:p.Met103Ile
ENST00000676835.1:c.*349G>T	ENSP00000502911.1:n.*349G>T
ENST00000677029.1:c.678G>T	ENSP00000502936.1:p.Met226Ile
ENST00000677099.1:c.*844G>T	ENSP00000504553.1:n.*844G>T
ENST00000677216.1:c.783G>T	ENSP00000503772.1:p.Met261Ile
ENST00000677293.1:c.309G>T	ENSP00000504278.1:p.Met103Ile
ENST00000677295.1:c.*511G>T	ENSP00000504346.1:n.*511G>T
ENST00000677444.1:c.940G>T
ENST00000677586.1:n.615G>T
ENST00000677626.1:c.824+1823G>T	ENSP00000503552.1:n.824+1823G>T
ENST00000677677.1:n.1094G>T
ENST00000677853.1:c.*142G>T	ENSP00000503488.1:n.*142G>T
ENST00000677944.1:c.396G>T
ENST00000678264.1:c.*511G>T	ENSP00000503157.1:n.*511G>T
ENST00000678303.1:c.1044G>T	ENSP00000503696.1:p.Met348Ile
ENST00000678366.1:c.*1383G>T	ENSP00000504353.1:n.*1383G>T
ENST00000678546.1:c.*1079G>T	ENSP00000503062.1:n.*1079G>T
ENST00000678548.1:c.*1206G>T	ENSP00000503934.1:n.*1206G>T
ENST00000678626.1:n.831G>T
ENST00000678733.1:c.256+1154G>T
ENST00000678739.1:c.*1460G>T	ENSP00000503806.1:n.*1460G>T
ENST00000678795.1:n.221G>T
ENST00000678833.1:c.*581G>T	ENSP00000503893.1:n.*581G>T
ENST00000678942.1:c.314G>T	ENSP00000504690.1:n.314G>T
ENST00000679023.1:c.972G>T	ENSP00000503718.1:p.Met324Ile
ENST00000679073.1:c.512G>T	ENSP00000504356.1:n.512G>T
ENST00000679076.1:c.753G>T
ENST00000679111.1:c.1134G>T	ENSP00000504257.1:p.Met378Ile
ENST00000679189.1:c.783G>T	ENSP00000503356.1:p.Met261Ile
ENST00000341012.11:c.972G>T	ENSP00000343034.7:p.Met324Ile
ENST00000372228.7:c.1200G>T	ENSP00000361302.3:p.Met400Ile
ENST00000402686.7:c.1134G>T	ENSP00000385797.3:p.Met378Ile
ENST00000404875.6:c.783G>T	ENSP00000384531.2:p.Met261Ile
ENST00000423007.5:c.1134G>T	ENSP00000404119.1:p.Met378Ile
ENST00000441334.5:c.849G>T	ENSP00000395060.1:p.Met283Ile
ENST00000462375.5:n.960G>T
ENST00000485278.5:n.1689G>T
NM_001077365.1:c.1134G>T	NP_001070833.1:p.Met378Ile
NM_001077366.1:c.972G>T	NP_001070834.1:p.Met324Ile
NM_001136113.1:c.1134G>T	NP_001129585.1:p.Met378Ile
NM_001136114.1:c.783G>T	NP_001129586.1:p.Met261Ile
NM_007171.3:c.1200G>T	NP_009102.3:p.Met400Ile
XM_005272156.1:c.1200G>T	XP_005272213.1:p.Met400Ile
XM_005272158.1:c.1038G>T	XP_005272215.1:p.Met346Ile
XM_005272159.1:c.849G>T	XP_005272216.1:p.Met283Ile
XM_005272162.1:c.3G>T	XP_005272219.1:p.Met1Ile
XM_006716932.1:c.849G>T	XP_006716995.1:p.Met283Ile
XM_011518140.1:c.1053G>T	XP_011516442.1:p.Met351Ile
XM_011518141.1:c.987G>T	XP_011516443.1:p.Met329Ile
XM_011518142.1:c.891G>T	XP_011516444.1:p.Met297Ile
XM_011518143.1:c.885G>T	XP_011516445.1:p.Met295Ile
XM_011518144.1:c.1200G>T	XP_011516446.1:p.Met400Ile
XM_011518145.1:c.744G>T	XP_011516447.1:p.Met248Ile
XM_011518146.1:c.885G>T	XP_011516448.1:p.Met295Ile
XR_929703.1:n.1376G>T
NM_001353193.1:c.1200G>T	NP_001340122.1:p.Met400Ile
NM_001353194.1:c.972G>T	NP_001340123.1:p.Met324Ile
NM_001353195.1:c.783G>T	NP_001340124.1:p.Met261Ile
NM_001353196.1:c.1044G>T	NP_001340125.1:p.Met348Ile
NM_001353197.1:c.1038G>T	NP_001340126.1:p.Met346Ile
NM_001353198.1:c.1038G>T	NP_001340127.1:p.Met346Ile
NM_001353199.1:c.849G>T	NP_001340128.1:p.Met283Ile
NM_001353200.1:c.678G>T	NP_001340129.1:p.Met226Ile
NR_148391.1:n.1184G>T
NR_148392.1:n.1402G>T
NR_148393.1:n.1184G>T
NR_148394.1:n.1077G>T
NR_148395.1:n.1336G>T
NR_148396.1:n.970G>T
NR_148397.1:n.1234G>T
NR_148398.1:n.1189G>T
NR_148399.1:n.1576G>T
NR_148400.1:n.1175G>T
XM_005272162.3:c.3G>T	XP_005272219.1:p.Met1Ile
XM_006716932.2:c.849G>T	XP_006716995.1:p.Met283Ile
XM_011518140.2:c.1053G>T	XP_011516442.1:p.Met351Ile
XM_011518141.2:c.987G>T	XP_011516443.1:p.Met329Ile
XM_011518142.2:c.891G>T	XP_011516444.1:p.Met297Ile
XM_011518143.2:c.885G>T	XP_011516445.1:p.Met295Ile
XM_011518145.2:c.744G>T	XP_011516447.1:p.Met248Ile
XM_017014205.2:c.3G>T	XP_016869694.1:p.Met1Ile
XM_024447380.1:c.3G>T	XP_024303148.1:p.Met1Ile
XM_024447381.1:c.309G>T	XP_024303149.1:p.Met103Ile
XM_024447382.1:c.3G>T	XP_024303150.1:p.Met1Ile
XR_001746160.2:n.1304G>T
XR_001746162.2:n.1370G>T
XR_001746164.1:n.1087G>T
XR_001746166.2:n.1521G>T
NM_001077365.2:c.1134G>T MANE Select	NP_001070833.1:p.Met378Ile
NM_001077366.2:c.972G>T	NP_001070834.1:p.Met324Ile
NM_001136113.2:c.1134G>T	NP_001129585.1:p.Met378Ile
NM_001136114.2:c.783G>T	NP_001129586.1:p.Met261Ile
NM_001353193.2:c.1200G>T	NP_001340122.2:p.Met400Ile
NM_001353194.2:c.972G>T	NP_001340123.1:p.Met324Ile
NM_001353195.2:c.783G>T	NP_001340124.1:p.Met261Ile
NM_001353196.2:c.1044G>T	NP_001340125.1:p.Met348Ile
NM_001353197.2:c.1038G>T	NP_001340126.2:p.Met346Ile
NM_001353198.2:c.1038G>T	NP_001340127.2:p.Met346Ile
NM_001353199.2:c.849G>T	NP_001340128.2:p.Met283Ile
NM_001353200.2:c.678G>T	NP_001340129.1:p.Met226Ile
NM_001374689.1:c.1122G>T	NP_001361618.1:p.Met374Ile
NM_001374690.1:c.1134G>T	NP_001361619.1:p.Met378Ile
NM_001374691.1:c.783G>T	NP_001361620.1:p.Met261Ile
NM_001374692.1:c.783G>T	NP_001361621.1:p.Met261Ile
NM_001374693.1:c.824+1823G>T	NP_001361622.1:n.824+1823G>T
NM_001374695.1:c.744G>T	NP_001361624.1:p.Met248Ile
NM_007171.4:c.1200G>T	NP_009102.4:p.Met400Ile
NR_148391.2:n.1168G>T
NR_148392.2:n.1386G>T
NR_148393.2:n.1168G>T
NR_148394.2:n.1061G>T
NR_148395.2:n.1320G>T
NR_148396.2:n.954G>T
NR_148397.2:n.1218G>T
NR_148398.2:n.1173G>T
NR_148399.2:n.1560G>T
NR_148400.2:n.1159G>T