Canonical Allele Identifier: CA467423487

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394244T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518857T>A , CM000671.2:g.131518857T>A	GRCh38
NC_000009.11:g.134394244T>A , CM000671.1:g.134394244T>A	GRCh37
NC_000009.10:g.133384065T>A	NCBI36
NG_008896.1:g.20956T>A
NG_008896.2:g.20956T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1224T>A	ENSP00000343034.7:p.Pro408=
ENST00000404875.7:n.1926T>A
ENST00000423007.6:c.1443T>A	ENSP00000404119.2:p.Pro481=
ENST00000677295.2:c.*1730T>A	ENSP00000504346.2:n.*1730T>A
ENST00000678264.2:c.*1569T>A	ENSP00000503157.2:n.*1569T>A
ENST00000682070.1:n.1851T>A
ENST00000682539.1:c.324T>A
ENST00000682813.1:n.1790T>A
ENST00000683392.1:n.4133T>A
ENST00000683712.1:n.1791T>A
ENST00000683900.1:n.3286T>A
ENST00000684062.1:n.2052T>A
ENST00000684579.1:n.3232T>A
ENST00000684679.1:n.613T>A
ENST00000341012.12:c.1224T>A	ENSP00000343034.7:p.Pro408=
ENST00000372220.5:c.255T>A	ENSP00000361294.5:p.Pro85=
ENST00000372228.9:c.1452T>A	ENSP00000361302.3:p.Pro484=
ENST00000402686.8:c.1386T>A MANE Select	ENSP00000385797.4:p.Pro462=
ENST00000676640.1:c.1386T>A	ENSP00000503281.1:p.Pro462=
ENST00000676803.1:c.561T>A	ENSP00000503093.1:p.Pro187=
ENST00000676835.1:c.*601T>A	ENSP00000502911.1:n.*601T>A
ENST00000677029.1:c.930T>A	ENSP00000502936.1:p.Pro310=
ENST00000677099.1:c.*1096T>A	ENSP00000504553.1:n.*1096T>A
ENST00000677216.1:c.1035T>A	ENSP00000503772.1:p.Pro345=
ENST00000677221.1:n.411T>A
ENST00000677295.1:c.*763T>A	ENSP00000504346.1:n.*763T>A
ENST00000677444.1:c.1331T>A
ENST00000677586.1:n.867T>A
ENST00000677626.1:c.1035T>A	ENSP00000503552.1:p.Pro345=
ENST00000677677.1:n.1346T>A
ENST00000677853.1:c.*394T>A	ENSP00000503488.1:n.*394T>A
ENST00000678202.1:n.545T>A
ENST00000678264.1:c.*763T>A	ENSP00000503157.1:n.*763T>A
ENST00000678303.1:c.1296T>A	ENSP00000503696.1:p.Pro432=
ENST00000678366.1:c.*1635T>A	ENSP00000504353.1:n.*1635T>A
ENST00000678546.1:c.*1331T>A	ENSP00000503062.1:n.*1331T>A
ENST00000678548.1:c.*1458T>A	ENSP00000503934.1:n.*1458T>A
ENST00000678626.1:n.1222T>A
ENST00000678733.1:c.467T>A
ENST00000678739.1:c.*1712T>A	ENSP00000503806.1:n.*1712T>A
ENST00000678833.1:c.*833T>A	ENSP00000503893.1:n.*833T>A
ENST00000679023.1:c.1224T>A	ENSP00000503718.1:p.Pro408=
ENST00000679076.1:c.1005T>A
ENST00000679111.1:c.*142T>A	ENSP00000504257.1:n.*142T>A
ENST00000679189.1:c.1035T>A	ENSP00000503356.1:p.Pro345=
ENST00000341012.11:c.1224T>A	ENSP00000343034.7:p.Pro408=
ENST00000372220.4:c.249T>A	ENSP00000361294.4:p.Pro83=
ENST00000372228.7:c.1452T>A	ENSP00000361302.3:p.Pro484=
ENST00000402686.7:c.1386T>A	ENSP00000385797.3:p.Pro462=
ENST00000404875.6:c.1035T>A	ENSP00000384531.2:p.Pro345=
ENST00000423007.5:c.1386T>A	ENSP00000404119.1:p.Pro462=
ENST00000467848.1:n.90T>A
ENST00000485278.5:n.1941T>A
NM_001077365.1:c.1386T>A	NP_001070833.1:p.Pro462=
NM_001077366.1:c.1224T>A	NP_001070834.1:p.Pro408=
NM_001136113.1:c.1386T>A	NP_001129585.1:p.Pro462=
NM_001136114.1:c.1035T>A	NP_001129586.1:p.Pro345=
NM_007171.3:c.1452T>A	NP_009102.3:p.Pro484=
XM_005272156.1:c.1452T>A	XP_005272213.1:p.Pro484=
XM_005272158.1:c.1290T>A	XP_005272215.1:p.Pro430=
XM_005272159.1:c.1101T>A	XP_005272216.1:p.Pro367=
XM_005272162.1:c.255T>A	XP_005272219.1:p.Pro85=
XM_006716932.1:c.1101T>A	XP_006716995.1:p.Pro367=
XM_011518140.1:c.1305T>A	XP_011516442.1:p.Pro435=
XM_011518141.1:c.1239T>A	XP_011516443.1:p.Pro413=
XM_011518142.1:c.1143T>A	XP_011516444.1:p.Pro381=
XM_011518143.1:c.1137T>A	XP_011516445.1:p.Pro379=
XM_011518144.1:c.*142T>A	XP_011516446.1:n.*142T>A
XM_011518145.1:c.996T>A	XP_011516447.1:p.Pro332=
XM_011518146.1:c.*142T>A	XP_011516448.1:n.*142T>A
XM_011518147.1:c.324T>A	XP_011516449.1:p.Pro108=
XR_929703.1:n.1628T>A
NM_001353193.1:c.1452T>A	NP_001340122.1:p.Pro484=
NM_001353194.1:c.1224T>A	NP_001340123.1:p.Pro408=
NM_001353195.1:c.1035T>A	NP_001340124.1:p.Pro345=
NM_001353196.1:c.1296T>A	NP_001340125.1:p.Pro432=
NM_001353197.1:c.1290T>A	NP_001340126.1:p.Pro430=
NM_001353198.1:c.1290T>A	NP_001340127.1:p.Pro430=
NM_001353199.1:c.1101T>A	NP_001340128.1:p.Pro367=
NM_001353200.1:c.930T>A	NP_001340129.1:p.Pro310=
NR_148391.1:n.1436T>A
NR_148392.1:n.1654T>A
NR_148393.1:n.1575T>A
NR_148394.1:n.1329T>A
NR_148395.1:n.1727T>A
NR_148396.1:n.1361T>A
NR_148397.1:n.1486T>A
NR_148398.1:n.1441T>A
NR_148399.1:n.1967T>A
NR_148400.1:n.1566T>A
XM_005272162.3:c.255T>A	XP_005272219.1:p.Pro85=
XM_006716932.2:c.1101T>A	XP_006716995.1:p.Pro367=
XM_011518140.2:c.1305T>A	XP_011516442.1:p.Pro435=
XM_011518141.2:c.1239T>A	XP_011516443.1:p.Pro413=
XM_011518142.2:c.1143T>A	XP_011516444.1:p.Pro381=
XM_011518143.2:c.1137T>A	XP_011516445.1:p.Pro379=
XM_011518145.2:c.996T>A	XP_011516447.1:p.Pro332=
XM_017014205.2:c.255T>A	XP_016869694.1:p.Pro85=
XM_024447380.1:c.255T>A	XP_024303148.1:p.Pro85=
XM_024447381.1:c.561T>A	XP_024303149.1:p.Pro187=
XM_024447382.1:c.255T>A	XP_024303150.1:p.Pro85=
XR_001746160.2:n.1556T>A
XR_001746162.2:n.1761T>A
XR_001746164.1:n.1478T>A
XR_001746166.2:n.1773T>A
NM_001077365.2:c.1386T>A MANE Select	NP_001070833.1:p.Pro462=
NM_001077366.2:c.1224T>A	NP_001070834.1:p.Pro408=
NM_001136113.2:c.1386T>A	NP_001129585.1:p.Pro462=
NM_001136114.2:c.1035T>A	NP_001129586.1:p.Pro345=
NM_001353193.2:c.1452T>A	NP_001340122.2:p.Pro484=
NM_001353194.2:c.1224T>A	NP_001340123.1:p.Pro408=
NM_001353195.2:c.1035T>A	NP_001340124.1:p.Pro345=
NM_001353196.2:c.1296T>A	NP_001340125.1:p.Pro432=
NM_001353197.2:c.1290T>A	NP_001340126.2:p.Pro430=
NM_001353198.2:c.1290T>A	NP_001340127.2:p.Pro430=
NM_001353199.2:c.1101T>A	NP_001340128.2:p.Pro367=
NM_001353200.2:c.930T>A	NP_001340129.1:p.Pro310=
NM_001374689.1:c.1374T>A	NP_001361618.1:p.Pro458=
NM_001374690.1:c.1365+320T>A	NP_001361619.1:n.1365+320T>A
NM_001374691.1:c.1035T>A	NP_001361620.1:p.Pro345=
NM_001374692.1:c.1035T>A	NP_001361621.1:p.Pro345=
NM_001374693.1:c.1035T>A	NP_001361622.1:p.Pro345=
NM_001374695.1:c.996T>A	NP_001361624.1:p.Pro332=
NM_007171.4:c.1452T>A	NP_009102.4:p.Pro484=
NR_148391.2:n.1420T>A
NR_148392.2:n.1638T>A
NR_148393.2:n.1559T>A
NR_148394.2:n.1313T>A
NR_148395.2:n.1711T>A
NR_148396.2:n.1345T>A
NR_148397.2:n.1470T>A
NR_148398.2:n.1425T>A
NR_148399.2:n.1951T>A
NR_148400.2:n.1550T>A