Canonical Allele Identifier: CA375314244

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397473C>G (hg19) ; chr9:g.131522086C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522086C>G , CM000671.2:g.131522086C>G	GRCh38
NC_000009.11:g.134397473C>G , CM000671.1:g.134397473C>G	GRCh37
NC_000009.10:g.133387294C>G	NCBI36
NG_008896.1:g.24185C>G
NG_008896.2:g.24185C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1703C>G	ENSP00000343034.7:p.Ala568Gly
ENST00000404875.7:n.2405C>G
ENST00000423007.6:c.1922C>G	ENSP00000404119.2:p.Ala641Gly
ENST00000677295.2:c.*2209C>G	ENSP00000504346.2:n.*2209C>G
ENST00000678264.2:c.*2048C>G	ENSP00000503157.2:n.*2048C>G
ENST00000682070.1:n.2291-116C>G
ENST00000682813.1:n.2269C>G
ENST00000683392.1:n.4573-116C>G
ENST00000683712.1:n.2270C>G
ENST00000683900.1:n.3765C>G
ENST00000684062.1:n.2531C>G
ENST00000684579.1:n.3711C>G
ENST00000684679.1:n.1092C>G
ENST00000341012.12:c.1703C>G	ENSP00000343034.7:p.Ala568Gly
ENST00000372220.5:c.734C>G	ENSP00000361294.5:p.Ala245Gly
ENST00000372228.9:c.1931C>G	ENSP00000361302.3:p.Ala644Gly
ENST00000402686.8:c.1865C>G MANE Select	ENSP00000385797.4:p.Ala622Gly
ENST00000676640.1:c.1865C>G	ENSP00000503281.1:p.Ala622Gly
ENST00000676803.1:c.926C>G	ENSP00000503093.1:p.Ala309Gly
ENST00000676835.1:c.*1080C>G	ENSP00000502911.1:n.*1080C>G
ENST00000677029.1:c.1409C>G	ENSP00000502936.1:p.Ala470Gly
ENST00000677099.1:c.*1575C>G	ENSP00000504553.1:n.*1575C>G
ENST00000677216.1:c.1514C>G	ENSP00000503772.1:p.Ala505Gly
ENST00000677221.1:n.890C>G
ENST00000677295.1:c.*1203-116C>G	ENSP00000504346.1:n.*1203-116C>G
ENST00000677444.1:c.1810C>G
ENST00000677586.1:n.1232C>G
ENST00000677626.1:c.1514C>G	ENSP00000503552.1:p.Ala505Gly
ENST00000677853.1:c.*873C>G	ENSP00000503488.1:n.*873C>G
ENST00000678202.1:n.1024C>G
ENST00000678264.1:c.*1242C>G	ENSP00000503157.1:n.*1242C>G
ENST00000678303.1:c.1775C>G	ENSP00000503696.1:p.Ala592Gly
ENST00000678366.1:c.*2114C>G	ENSP00000504353.1:n.*2114C>G
ENST00000678546.1:c.*1810C>G	ENSP00000503062.1:n.*1810C>G
ENST00000678548.1:c.*2004C>G	ENSP00000503934.1:n.*2004C>G
ENST00000678626.1:n.1701C>G
ENST00000678739.1:c.*2147-116C>G	ENSP00000503806.1:n.*2147-116C>G
ENST00000678833.1:c.*1617C>G	ENSP00000503893.1:n.*1617C>G
ENST00000679023.1:c.1703C>G	ENSP00000503718.1:p.Ala568Gly
ENST00000679076.1:c.1484C>G
ENST00000679111.1:c.*621C>G	ENSP00000504257.1:n.*621C>G
ENST00000679189.1:c.1514C>G	ENSP00000503356.1:p.Ala505Gly
ENST00000341012.11:c.1703C>G	ENSP00000343034.7:p.Ala568Gly
ENST00000372220.4:c.728C>G	ENSP00000361294.4:p.Ala243Gly
ENST00000372228.7:c.1931C>G	ENSP00000361302.3:p.Ala644Gly
ENST00000402686.7:c.1865C>G	ENSP00000385797.3:p.Ala622Gly
ENST00000404875.6:c.1514C>G	ENSP00000384531.2:p.Ala505Gly
ENST00000423007.5:c.1865C>G	ENSP00000404119.1:p.Ala622Gly
ENST00000485278.5:n.2415C>G
ENST00000494883.1:n.408C>G
NM_001077365.1:c.1865C>G	NP_001070833.1:p.Ala622Gly
NM_001077366.1:c.1703C>G	NP_001070834.1:p.Ala568Gly
NM_001136113.1:c.1865C>G	NP_001129585.1:p.Ala622Gly
NM_001136114.1:c.1514C>G	NP_001129586.1:p.Ala505Gly
NM_007171.3:c.1931C>G	NP_009102.3:p.Ala644Gly
XM_005272156.1:c.1931C>G	XP_005272213.1:p.Ala644Gly
XM_005272158.1:c.1769C>G	XP_005272215.1:p.Ala590Gly
XM_005272159.1:c.1580C>G	XP_005272216.1:p.Ala527Gly
XM_005272162.1:c.734C>G	XP_005272219.1:p.Ala245Gly
XM_006716932.1:c.1580C>G	XP_006716995.1:p.Ala527Gly
XM_011518140.1:c.1784C>G	XP_011516442.1:p.Ala595Gly
XM_011518141.1:c.1718C>G	XP_011516443.1:p.Ala573Gly
XM_011518142.1:c.1622C>G	XP_011516444.1:p.Ala541Gly
XM_011518143.1:c.1616C>G	XP_011516445.1:p.Ala539Gly
XM_011518145.1:c.1475C>G	XP_011516447.1:p.Ala492Gly
XM_011518147.1:c.803C>G	XP_011516449.1:p.Ala268Gly
XR_929703.1:n.2107C>G
NM_001353193.1:c.1931C>G	NP_001340122.1:p.Ala644Gly
NM_001353194.1:c.1703C>G	NP_001340123.1:p.Ala568Gly
NM_001353195.1:c.1514C>G	NP_001340124.1:p.Ala505Gly
NM_001353196.1:c.1775C>G	NP_001340125.1:p.Ala592Gly
NM_001353197.1:c.1769C>G	NP_001340126.1:p.Ala590Gly
NM_001353198.1:c.1769C>G	NP_001340127.1:p.Ala590Gly
NM_001353199.1:c.1580C>G	NP_001340128.1:p.Ala527Gly
NM_001353200.1:c.1409C>G	NP_001340129.1:p.Ala470Gly
NR_148391.1:n.1915C>G
NR_148392.1:n.2133C>G
NR_148393.1:n.2054C>G
NR_148394.1:n.1808C>G
NR_148395.1:n.2206C>G
NR_148396.1:n.1840C>G
NR_148397.1:n.1965C>G
NR_148398.1:n.1920C>G
NR_148399.1:n.2446C>G
NR_148400.1:n.2045C>G
XM_005272162.3:c.734C>G	XP_005272219.1:p.Ala245Gly
XM_006716932.2:c.1580C>G	XP_006716995.1:p.Ala527Gly
XM_011518140.2:c.1784C>G	XP_011516442.1:p.Ala595Gly
XM_011518141.2:c.1718C>G	XP_011516443.1:p.Ala573Gly
XM_011518142.2:c.1622C>G	XP_011516444.1:p.Ala541Gly
XM_011518143.2:c.1616C>G	XP_011516445.1:p.Ala539Gly
XM_011518145.2:c.1475C>G	XP_011516447.1:p.Ala492Gly
XM_017014205.2:c.734C>G	XP_016869694.1:p.Ala245Gly
XM_024447380.1:c.734C>G	XP_024303148.1:p.Ala245Gly
XM_024447381.1:c.1040C>G	XP_024303149.1:p.Ala347Gly
XM_024447382.1:c.734C>G	XP_024303150.1:p.Ala245Gly
XR_001746160.2:n.2035C>G
XR_001746162.2:n.2240C>G
XR_001746164.1:n.1957C>G
XR_001746166.2:n.2252C>G
NM_001077365.2:c.1865C>G MANE Select	NP_001070833.1:p.Ala622Gly
NM_001077366.2:c.1703C>G	NP_001070834.1:p.Ala568Gly
NM_001136113.2:c.1865C>G	NP_001129585.1:p.Ala622Gly
NM_001136114.2:c.1514C>G	NP_001129586.1:p.Ala505Gly
NM_001353193.2:c.1931C>G	NP_001340122.2:p.Ala644Gly
NM_001353194.2:c.1703C>G	NP_001340123.1:p.Ala568Gly
NM_001353195.2:c.1514C>G	NP_001340124.1:p.Ala505Gly
NM_001353196.2:c.1775C>G	NP_001340125.1:p.Ala592Gly
NM_001353197.2:c.1769C>G	NP_001340126.2:p.Ala590Gly
NM_001353198.2:c.1769C>G	NP_001340127.2:p.Ala590Gly
NM_001353199.2:c.1580C>G	NP_001340128.2:p.Ala527Gly
NM_001353200.2:c.1409C>G	NP_001340129.1:p.Ala470Gly
NM_001374689.1:c.1853C>G	NP_001361618.1:p.Ala618Gly
NM_001374690.1:c.1646C>G	NP_001361619.1:p.Ala549Gly
NM_001374691.1:c.1514C>G	NP_001361620.1:p.Ala505Gly
NM_001374692.1:c.1514C>G	NP_001361621.1:p.Ala505Gly
NM_001374693.1:c.1514C>G	NP_001361622.1:p.Ala505Gly
NM_001374695.1:c.1475C>G	NP_001361624.1:p.Ala492Gly
NM_007171.4:c.1931C>G	NP_009102.4:p.Ala644Gly
NR_148391.2:n.1899C>G
NR_148392.2:n.2117C>G
NR_148393.2:n.2038C>G
NR_148394.2:n.1792C>G
NR_148395.2:n.2190C>G
NR_148396.2:n.1824C>G
NR_148397.2:n.1949C>G
NR_148398.2:n.1904C>G
NR_148399.2:n.2430C>G
NR_148400.2:n.2029C>G