Canonical Allele Identifier: CA375311892

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394269A>C (hg19) ; chr9:g.131518882A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518882A>C , CM000671.2:g.131518882A>C	GRCh38
NC_000009.11:g.134394269A>C , CM000671.1:g.134394269A>C	GRCh37
NC_000009.10:g.133384090A>C	NCBI36
NG_008896.1:g.20981A>C
NG_008896.2:g.20981A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1249A>C	ENSP00000343034.7:p.Ile417Leu
ENST00000404875.7:n.1951A>C
ENST00000423007.6:c.1468A>C	ENSP00000404119.2:p.Ile490Leu
ENST00000677295.2:c.*1755A>C	ENSP00000504346.2:n.*1755A>C
ENST00000678264.2:c.*1594A>C	ENSP00000503157.2:n.*1594A>C
ENST00000682070.1:n.1876A>C
ENST00000682539.1:c.349A>C
ENST00000682813.1:n.1815A>C
ENST00000683392.1:n.4158A>C
ENST00000683712.1:n.1816A>C
ENST00000683900.1:n.3311A>C
ENST00000684062.1:n.2077A>C
ENST00000684579.1:n.3257A>C
ENST00000684679.1:n.638A>C
ENST00000341012.12:c.1249A>C	ENSP00000343034.7:p.Ile417Leu
ENST00000372220.5:c.280A>C	ENSP00000361294.5:p.Ile94Leu
ENST00000372228.9:c.1477A>C	ENSP00000361302.3:p.Ile493Leu
ENST00000402686.8:c.1411A>C MANE Select	ENSP00000385797.4:p.Ile471Leu
ENST00000676640.1:c.1411A>C	ENSP00000503281.1:p.Ile471Leu
ENST00000676803.1:c.586A>C	ENSP00000503093.1:p.Ile196Leu
ENST00000676835.1:c.*626A>C	ENSP00000502911.1:n.*626A>C
ENST00000677029.1:c.955A>C	ENSP00000502936.1:p.Ile319Leu
ENST00000677099.1:c.*1121A>C	ENSP00000504553.1:n.*1121A>C
ENST00000677216.1:c.1060A>C	ENSP00000503772.1:p.Ile354Leu
ENST00000677221.1:n.436A>C
ENST00000677295.1:c.*788A>C	ENSP00000504346.1:n.*788A>C
ENST00000677444.1:c.1356A>C
ENST00000677586.1:n.892A>C
ENST00000677626.1:c.1060A>C	ENSP00000503552.1:p.Ile354Leu
ENST00000677677.1:n.1371A>C
ENST00000677853.1:c.*419A>C	ENSP00000503488.1:n.*419A>C
ENST00000678202.1:n.570A>C
ENST00000678264.1:c.*788A>C	ENSP00000503157.1:n.*788A>C
ENST00000678303.1:c.1321A>C	ENSP00000503696.1:p.Ile441Leu
ENST00000678366.1:c.*1660A>C	ENSP00000504353.1:n.*1660A>C
ENST00000678546.1:c.*1356A>C	ENSP00000503062.1:n.*1356A>C
ENST00000678548.1:c.*1483A>C	ENSP00000503934.1:n.*1483A>C
ENST00000678626.1:n.1247A>C
ENST00000678733.1:c.492A>C
ENST00000678739.1:c.*1737A>C	ENSP00000503806.1:n.*1737A>C
ENST00000678833.1:c.*858A>C	ENSP00000503893.1:n.*858A>C
ENST00000679023.1:c.1249A>C	ENSP00000503718.1:p.Ile417Leu
ENST00000679076.1:c.1030A>C
ENST00000679111.1:c.*167A>C	ENSP00000504257.1:n.*167A>C
ENST00000679189.1:c.1060A>C	ENSP00000503356.1:p.Ile354Leu
ENST00000341012.11:c.1249A>C	ENSP00000343034.7:p.Ile417Leu
ENST00000372220.4:c.274A>C	ENSP00000361294.4:p.Ile92Leu
ENST00000372228.7:c.1477A>C	ENSP00000361302.3:p.Ile493Leu
ENST00000402686.7:c.1411A>C	ENSP00000385797.3:p.Ile471Leu
ENST00000404875.6:c.1060A>C	ENSP00000384531.2:p.Ile354Leu
ENST00000423007.5:c.1411A>C	ENSP00000404119.1:p.Ile471Leu
ENST00000467848.1:n.115A>C
ENST00000485278.5:n.1966A>C
NM_001077365.1:c.1411A>C	NP_001070833.1:p.Ile471Leu
NM_001077366.1:c.1249A>C	NP_001070834.1:p.Ile417Leu
NM_001136113.1:c.1411A>C	NP_001129585.1:p.Ile471Leu
NM_001136114.1:c.1060A>C	NP_001129586.1:p.Ile354Leu
NM_007171.3:c.1477A>C	NP_009102.3:p.Ile493Leu
XM_005272156.1:c.1477A>C	XP_005272213.1:p.Ile493Leu
XM_005272158.1:c.1315A>C	XP_005272215.1:p.Ile439Leu
XM_005272159.1:c.1126A>C	XP_005272216.1:p.Ile376Leu
XM_005272162.1:c.280A>C	XP_005272219.1:p.Ile94Leu
XM_006716932.1:c.1126A>C	XP_006716995.1:p.Ile376Leu
XM_011518140.1:c.1330A>C	XP_011516442.1:p.Ile444Leu
XM_011518141.1:c.1264A>C	XP_011516443.1:p.Ile422Leu
XM_011518142.1:c.1168A>C	XP_011516444.1:p.Ile390Leu
XM_011518143.1:c.1162A>C	XP_011516445.1:p.Ile388Leu
XM_011518144.1:c.*167A>C	XP_011516446.1:n.*167A>C
XM_011518145.1:c.1021A>C	XP_011516447.1:p.Ile341Leu
XM_011518146.1:c.*167A>C	XP_011516448.1:n.*167A>C
XM_011518147.1:c.349A>C	XP_011516449.1:p.Ile117Leu
XR_929703.1:n.1653A>C
NM_001353193.1:c.1477A>C	NP_001340122.1:p.Ile493Leu
NM_001353194.1:c.1249A>C	NP_001340123.1:p.Ile417Leu
NM_001353195.1:c.1060A>C	NP_001340124.1:p.Ile354Leu
NM_001353196.1:c.1321A>C	NP_001340125.1:p.Ile441Leu
NM_001353197.1:c.1315A>C	NP_001340126.1:p.Ile439Leu
NM_001353198.1:c.1315A>C	NP_001340127.1:p.Ile439Leu
NM_001353199.1:c.1126A>C	NP_001340128.1:p.Ile376Leu
NM_001353200.1:c.955A>C	NP_001340129.1:p.Ile319Leu
NR_148391.1:n.1461A>C
NR_148392.1:n.1679A>C
NR_148393.1:n.1600A>C
NR_148394.1:n.1354A>C
NR_148395.1:n.1752A>C
NR_148396.1:n.1386A>C
NR_148397.1:n.1511A>C
NR_148398.1:n.1466A>C
NR_148399.1:n.1992A>C
NR_148400.1:n.1591A>C
XM_005272162.3:c.280A>C	XP_005272219.1:p.Ile94Leu
XM_006716932.2:c.1126A>C	XP_006716995.1:p.Ile376Leu
XM_011518140.2:c.1330A>C	XP_011516442.1:p.Ile444Leu
XM_011518141.2:c.1264A>C	XP_011516443.1:p.Ile422Leu
XM_011518142.2:c.1168A>C	XP_011516444.1:p.Ile390Leu
XM_011518143.2:c.1162A>C	XP_011516445.1:p.Ile388Leu
XM_011518145.2:c.1021A>C	XP_011516447.1:p.Ile341Leu
XM_017014205.2:c.280A>C	XP_016869694.1:p.Ile94Leu
XM_024447380.1:c.280A>C	XP_024303148.1:p.Ile94Leu
XM_024447381.1:c.586A>C	XP_024303149.1:p.Ile196Leu
XM_024447382.1:c.280A>C	XP_024303150.1:p.Ile94Leu
XR_001746160.2:n.1581A>C
XR_001746162.2:n.1786A>C
XR_001746164.1:n.1503A>C
XR_001746166.2:n.1798A>C
NM_001077365.2:c.1411A>C MANE Select	NP_001070833.1:p.Ile471Leu
NM_001077366.2:c.1249A>C	NP_001070834.1:p.Ile417Leu
NM_001136113.2:c.1411A>C	NP_001129585.1:p.Ile471Leu
NM_001136114.2:c.1060A>C	NP_001129586.1:p.Ile354Leu
NM_001353193.2:c.1477A>C	NP_001340122.2:p.Ile493Leu
NM_001353194.2:c.1249A>C	NP_001340123.1:p.Ile417Leu
NM_001353195.2:c.1060A>C	NP_001340124.1:p.Ile354Leu
NM_001353196.2:c.1321A>C	NP_001340125.1:p.Ile441Leu
NM_001353197.2:c.1315A>C	NP_001340126.2:p.Ile439Leu
NM_001353198.2:c.1315A>C	NP_001340127.2:p.Ile439Leu
NM_001353199.2:c.1126A>C	NP_001340128.2:p.Ile376Leu
NM_001353200.2:c.955A>C	NP_001340129.1:p.Ile319Leu
NM_001374689.1:c.1399A>C	NP_001361618.1:p.Ile467Leu
NM_001374690.1:c.1365+345A>C	NP_001361619.1:n.1365+345A>C
NM_001374691.1:c.1060A>C	NP_001361620.1:p.Ile354Leu
NM_001374692.1:c.1060A>C	NP_001361621.1:p.Ile354Leu
NM_001374693.1:c.1060A>C	NP_001361622.1:p.Ile354Leu
NM_001374695.1:c.1021A>C	NP_001361624.1:p.Ile341Leu
NM_007171.4:c.1477A>C	NP_009102.4:p.Ile493Leu
NR_148391.2:n.1445A>C
NR_148392.2:n.1663A>C
NR_148393.2:n.1584A>C
NR_148394.2:n.1338A>C
NR_148395.2:n.1736A>C
NR_148396.2:n.1370A>C
NR_148397.2:n.1495A>C
NR_148398.2:n.1450A>C
NR_148399.2:n.1976A>C
NR_148400.2:n.1575A>C