Canonical Allele Identifier: CA375313753

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396781C>G (hg19) ; chr9:g.131521394C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521394C>G , CM000671.2:g.131521394C>G	GRCh38
NC_000009.11:g.134396781C>G , CM000671.1:g.134396781C>G	GRCh37
NC_000009.10:g.133386602C>G	NCBI36
NG_008896.1:g.23493C>G
NG_008896.2:g.23493C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1585C>G	ENSP00000343034.7:p.Leu529Val
ENST00000404875.7:n.2287C>G
ENST00000423007.6:c.1804C>G	ENSP00000404119.2:p.Leu602Val
ENST00000677295.2:c.*2091C>G	ENSP00000504346.2:n.*2091C>G
ENST00000678264.2:c.*1930C>G	ENSP00000503157.2:n.*1930C>G
ENST00000682070.1:n.2212C>G
ENST00000682813.1:n.2151C>G
ENST00000683392.1:n.4494C>G
ENST00000683712.1:n.2152C>G
ENST00000683900.1:n.3647C>G
ENST00000684062.1:n.2413C>G
ENST00000684579.1:n.3593C>G
ENST00000684679.1:n.974C>G
ENST00000341012.12:c.1585C>G	ENSP00000343034.7:p.Leu529Val
ENST00000372220.5:c.616C>G	ENSP00000361294.5:p.Leu206Val
ENST00000372228.9:c.1813C>G	ENSP00000361302.3:p.Leu605Val
ENST00000402686.8:c.1747C>G MANE Select	ENSP00000385797.4:p.Leu583Val
ENST00000676640.1:c.1747C>G	ENSP00000503281.1:p.Leu583Val
ENST00000676803.1:c.808C>G	ENSP00000503093.1:p.Leu270Val
ENST00000676835.1:c.*962C>G	ENSP00000502911.1:n.*962C>G
ENST00000677029.1:c.1291C>G	ENSP00000502936.1:p.Leu431Val
ENST00000677099.1:c.*1457C>G	ENSP00000504553.1:n.*1457C>G
ENST00000677216.1:c.1396C>G	ENSP00000503772.1:p.Leu466Val
ENST00000677221.1:n.772C>G
ENST00000677295.1:c.*1124C>G	ENSP00000504346.1:n.*1124C>G
ENST00000677444.1:c.1692C>G
ENST00000677586.1:n.1114C>G
ENST00000677626.1:c.1396C>G	ENSP00000503552.1:p.Leu466Val
ENST00000677853.1:c.*755C>G	ENSP00000503488.1:n.*755C>G
ENST00000678202.1:n.906C>G
ENST00000678264.1:c.*1124C>G	ENSP00000503157.1:n.*1124C>G
ENST00000678303.1:c.1657C>G	ENSP00000503696.1:p.Leu553Val
ENST00000678366.1:c.*1996C>G	ENSP00000504353.1:n.*1996C>G
ENST00000678546.1:c.*1692C>G	ENSP00000503062.1:n.*1692C>G
ENST00000678548.1:c.*1819C>G	ENSP00000503934.1:n.*1819C>G
ENST00000678626.1:n.1583C>G
ENST00000678739.1:c.*2068C>G	ENSP00000503806.1:n.*2068C>G
ENST00000678833.1:c.*1499C>G	ENSP00000503893.1:n.*1499C>G
ENST00000679023.1:c.1585C>G	ENSP00000503718.1:p.Leu529Val
ENST00000679076.1:c.1366C>G
ENST00000679111.1:c.*503C>G	ENSP00000504257.1:n.*503C>G
ENST00000679189.1:c.1396C>G	ENSP00000503356.1:p.Leu466Val
ENST00000341012.11:c.1585C>G	ENSP00000343034.7:p.Leu529Val
ENST00000372220.4:c.610C>G	ENSP00000361294.4:p.Leu204Val
ENST00000372228.7:c.1813C>G	ENSP00000361302.3:p.Leu605Val
ENST00000402686.7:c.1747C>G	ENSP00000385797.3:p.Leu583Val
ENST00000404875.6:c.1396C>G	ENSP00000384531.2:p.Leu466Val
ENST00000423007.5:c.1747C>G	ENSP00000404119.1:p.Leu583Val
ENST00000467848.1:n.451C>G
ENST00000485278.5:n.2297C>G
ENST00000494883.1:n.290C>G
NM_001077365.1:c.1747C>G	NP_001070833.1:p.Leu583Val
NM_001077366.1:c.1585C>G	NP_001070834.1:p.Leu529Val
NM_001136113.1:c.1747C>G	NP_001129585.1:p.Leu583Val
NM_001136114.1:c.1396C>G	NP_001129586.1:p.Leu466Val
NM_007171.3:c.1813C>G	NP_009102.3:p.Leu605Val
XM_005272156.1:c.1813C>G	XP_005272213.1:p.Leu605Val
XM_005272158.1:c.1651C>G	XP_005272215.1:p.Leu551Val
XM_005272159.1:c.1462C>G	XP_005272216.1:p.Leu488Val
XM_005272162.1:c.616C>G	XP_005272219.1:p.Leu206Val
XM_006716932.1:c.1462C>G	XP_006716995.1:p.Leu488Val
XM_011518140.1:c.1666C>G	XP_011516442.1:p.Leu556Val
XM_011518141.1:c.1600C>G	XP_011516443.1:p.Leu534Val
XM_011518142.1:c.1504C>G	XP_011516444.1:p.Leu502Val
XM_011518143.1:c.1498C>G	XP_011516445.1:p.Leu500Val
XM_011518145.1:c.1357C>G	XP_011516447.1:p.Leu453Val
XM_011518147.1:c.685C>G	XP_011516449.1:p.Leu229Val
XR_929703.1:n.1989C>G
NM_001353193.1:c.1813C>G	NP_001340122.1:p.Leu605Val
NM_001353194.1:c.1585C>G	NP_001340123.1:p.Leu529Val
NM_001353195.1:c.1396C>G	NP_001340124.1:p.Leu466Val
NM_001353196.1:c.1657C>G	NP_001340125.1:p.Leu553Val
NM_001353197.1:c.1651C>G	NP_001340126.1:p.Leu551Val
NM_001353198.1:c.1651C>G	NP_001340127.1:p.Leu551Val
NM_001353199.1:c.1462C>G	NP_001340128.1:p.Leu488Val
NM_001353200.1:c.1291C>G	NP_001340129.1:p.Leu431Val
NR_148391.1:n.1797C>G
NR_148392.1:n.2015C>G
NR_148393.1:n.1936C>G
NR_148394.1:n.1690C>G
NR_148395.1:n.2088C>G
NR_148396.1:n.1722C>G
NR_148397.1:n.1847C>G
NR_148398.1:n.1802C>G
NR_148399.1:n.2328C>G
NR_148400.1:n.1927C>G
XM_005272162.3:c.616C>G	XP_005272219.1:p.Leu206Val
XM_006716932.2:c.1462C>G	XP_006716995.1:p.Leu488Val
XM_011518140.2:c.1666C>G	XP_011516442.1:p.Leu556Val
XM_011518141.2:c.1600C>G	XP_011516443.1:p.Leu534Val
XM_011518142.2:c.1504C>G	XP_011516444.1:p.Leu502Val
XM_011518143.2:c.1498C>G	XP_011516445.1:p.Leu500Val
XM_011518145.2:c.1357C>G	XP_011516447.1:p.Leu453Val
XM_017014205.2:c.616C>G	XP_016869694.1:p.Leu206Val
XM_024447380.1:c.616C>G	XP_024303148.1:p.Leu206Val
XM_024447381.1:c.922C>G	XP_024303149.1:p.Leu308Val
XM_024447382.1:c.616C>G	XP_024303150.1:p.Leu206Val
XR_001746160.2:n.1917C>G
XR_001746162.2:n.2122C>G
XR_001746164.1:n.1839C>G
XR_001746166.2:n.2134C>G
NM_001077365.2:c.1747C>G MANE Select	NP_001070833.1:p.Leu583Val
NM_001077366.2:c.1585C>G	NP_001070834.1:p.Leu529Val
NM_001136113.2:c.1747C>G	NP_001129585.1:p.Leu583Val
NM_001136114.2:c.1396C>G	NP_001129586.1:p.Leu466Val
NM_001353193.2:c.1813C>G	NP_001340122.2:p.Leu605Val
NM_001353194.2:c.1585C>G	NP_001340123.1:p.Leu529Val
NM_001353195.2:c.1396C>G	NP_001340124.1:p.Leu466Val
NM_001353196.2:c.1657C>G	NP_001340125.1:p.Leu553Val
NM_001353197.2:c.1651C>G	NP_001340126.2:p.Leu551Val
NM_001353198.2:c.1651C>G	NP_001340127.2:p.Leu551Val
NM_001353199.2:c.1462C>G	NP_001340128.2:p.Leu488Val
NM_001353200.2:c.1291C>G	NP_001340129.1:p.Leu431Val
NM_001374689.1:c.1735C>G	NP_001361618.1:p.Leu579Val
NM_001374690.1:c.1528C>G	NP_001361619.1:p.Leu510Val
NM_001374691.1:c.1396C>G	NP_001361620.1:p.Leu466Val
NM_001374692.1:c.1396C>G	NP_001361621.1:p.Leu466Val
NM_001374693.1:c.1396C>G	NP_001361622.1:p.Leu466Val
NM_001374695.1:c.1357C>G	NP_001361624.1:p.Leu453Val
NM_007171.4:c.1813C>G	NP_009102.4:p.Leu605Val
NR_148391.2:n.1781C>G
NR_148392.2:n.1999C>G
NR_148393.2:n.1920C>G
NR_148394.2:n.1674C>G
NR_148395.2:n.2072C>G
NR_148396.2:n.1706C>G
NR_148397.2:n.1831C>G
NR_148398.2:n.1786C>G
NR_148399.2:n.2312C>G
NR_148400.2:n.1911C>G