Canonical Allele Identifier: CA467424195

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398406C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523019C>A , CM000671.2:g.131523019C>A	GRCh38
NC_000009.11:g.134398406C>A , CM000671.1:g.134398406C>A	GRCh37
NC_000009.10:g.133388227C>A	NCBI36
NG_008896.1:g.25118C>A
NG_008896.2:g.25118C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1929C>A	ENSP00000343034.7:p.Leu643=
ENST00000404875.7:n.2631C>A
ENST00000423007.6:c.2148C>A	ENSP00000404119.2:p.Leu716=
ENST00000677295.2:c.*2435C>A	ENSP00000504346.2:n.*2435C>A
ENST00000678264.2:c.*2274C>A	ENSP00000503157.2:n.*2274C>A
ENST00000682070.1:n.2401C>A
ENST00000682639.1:c.88C>A
ENST00000682813.1:n.2488C>A
ENST00000683231.1:c.88C>A
ENST00000683392.1:n.4683C>A
ENST00000683712.1:n.2496C>A
ENST00000683900.1:n.3991C>A
ENST00000684062.1:n.2757C>A
ENST00000684399.1:c.88C>A
ENST00000684579.1:n.3937C>A
ENST00000341012.12:c.1929C>A	ENSP00000343034.7:p.Leu643=
ENST00000372220.5:c.960C>A	ENSP00000361294.5:p.Leu320=
ENST00000372228.9:c.2157C>A	ENSP00000361302.3:p.Leu719=
ENST00000402686.8:c.2091C>A MANE Select	ENSP00000385797.4:p.Leu697=
ENST00000676640.1:c.2091C>A	ENSP00000503281.1:p.Leu697=
ENST00000676803.1:c.1152C>A	ENSP00000503093.1:p.Leu384=
ENST00000676835.1:c.*1306C>A	ENSP00000502911.1:n.*1306C>A
ENST00000677029.1:c.1635C>A	ENSP00000502936.1:p.Leu545=
ENST00000677099.1:c.*1801C>A	ENSP00000504553.1:n.*1801C>A
ENST00000677216.1:c.1740C>A	ENSP00000503772.1:p.Leu580=
ENST00000677221.1:n.1116C>A
ENST00000677295.1:c.*1313C>A	ENSP00000504346.1:n.*1313C>A
ENST00000677444.1:c.2036C>A
ENST00000677586.1:n.1458C>A
ENST00000677626.1:c.1740C>A	ENSP00000503552.1:p.Leu580=
ENST00000677853.1:c.*1099C>A	ENSP00000503488.1:n.*1099C>A
ENST00000678264.1:c.*1468C>A	ENSP00000503157.1:n.*1468C>A
ENST00000678303.1:c.2001C>A	ENSP00000503696.1:p.Leu667=
ENST00000678366.1:c.*2340C>A	ENSP00000504353.1:n.*2340C>A
ENST00000678546.1:c.*2036C>A	ENSP00000503062.1:n.*2036C>A
ENST00000678548.1:c.*2230C>A	ENSP00000503934.1:n.*2230C>A
ENST00000678626.1:n.1927C>A
ENST00000678739.1:c.*2257C>A	ENSP00000503806.1:n.*2257C>A
ENST00000678833.1:c.*1843C>A	ENSP00000503893.1:n.*1843C>A
ENST00000679023.1:c.1929C>A	ENSP00000503718.1:p.Leu643=
ENST00000679076.1:c.1710C>A
ENST00000679111.1:c.*847C>A	ENSP00000504257.1:n.*847C>A
ENST00000679189.1:c.1740C>A	ENSP00000503356.1:p.Leu580=
ENST00000341012.11:c.1929C>A	ENSP00000343034.7:p.Leu643=
ENST00000372220.4:c.954C>A	ENSP00000361294.4:p.Leu318=
ENST00000372228.7:c.2157C>A	ENSP00000361302.3:p.Leu719=
ENST00000402686.7:c.2091C>A	ENSP00000385797.3:p.Leu697=
ENST00000404875.6:c.1740C>A	ENSP00000384531.2:p.Leu580=
ENST00000423007.5:c.2091C>A	ENSP00000404119.1:p.Leu697=
ENST00000485278.5:n.2641C>A
NM_001077365.1:c.2091C>A	NP_001070833.1:p.Leu697=
NM_001077366.1:c.1929C>A	NP_001070834.1:p.Leu643=
NM_001136113.1:c.2091C>A	NP_001129585.1:p.Leu697=
NM_001136114.1:c.1740C>A	NP_001129586.1:p.Leu580=
NM_007171.3:c.2157C>A	NP_009102.3:p.Leu719=
XM_005272156.1:c.2157C>A	XP_005272213.1:p.Leu719=
XM_005272158.1:c.1995C>A	XP_005272215.1:p.Leu665=
XM_005272159.1:c.1806C>A	XP_005272216.1:p.Leu602=
XM_005272162.1:c.960C>A	XP_005272219.1:p.Leu320=
XM_006716932.1:c.1806C>A	XP_006716995.1:p.Leu602=
XM_011518140.1:c.2010C>A	XP_011516442.1:p.Leu670=
XM_011518141.1:c.1944C>A	XP_011516443.1:p.Leu648=
XM_011518142.1:c.1848C>A	XP_011516444.1:p.Leu616=
XM_011518143.1:c.1842C>A	XP_011516445.1:p.Leu614=
XM_011518145.1:c.1701C>A	XP_011516447.1:p.Leu567=
XM_011518147.1:c.1029C>A	XP_011516449.1:p.Leu343=
XR_929703.1:n.2333C>A
NM_001353193.1:c.2157C>A	NP_001340122.1:p.Leu719=
NM_001353194.1:c.1929C>A	NP_001340123.1:p.Leu643=
NM_001353195.1:c.1740C>A	NP_001340124.1:p.Leu580=
NM_001353196.1:c.2001C>A	NP_001340125.1:p.Leu667=
NM_001353197.1:c.1995C>A	NP_001340126.1:p.Leu665=
NM_001353198.1:c.1995C>A	NP_001340127.1:p.Leu665=
NM_001353199.1:c.1806C>A	NP_001340128.1:p.Leu602=
NM_001353200.1:c.1635C>A	NP_001340129.1:p.Leu545=
NR_148391.1:n.2141C>A
NR_148392.1:n.2359C>A
NR_148393.1:n.2280C>A
NR_148394.1:n.2034C>A
NR_148395.1:n.2432C>A
NR_148396.1:n.2066C>A
NR_148397.1:n.2191C>A
NR_148398.1:n.2146C>A
NR_148399.1:n.2672C>A
NR_148400.1:n.2271C>A
XM_005272162.3:c.960C>A	XP_005272219.1:p.Leu320=
XM_006716932.2:c.1806C>A	XP_006716995.1:p.Leu602=
XM_011518140.2:c.2010C>A	XP_011516442.1:p.Leu670=
XM_011518141.2:c.1944C>A	XP_011516443.1:p.Leu648=
XM_011518142.2:c.1848C>A	XP_011516444.1:p.Leu616=
XM_011518143.2:c.1842C>A	XP_011516445.1:p.Leu614=
XM_011518145.2:c.1701C>A	XP_011516447.1:p.Leu567=
XM_017014205.2:c.960C>A	XP_016869694.1:p.Leu320=
XM_024447380.1:c.960C>A	XP_024303148.1:p.Leu320=
XM_024447381.1:c.1266C>A	XP_024303149.1:p.Leu422=
XM_024447382.1:c.960C>A	XP_024303150.1:p.Leu320=
XR_001746160.2:n.2261C>A
XR_001746162.2:n.2466C>A
XR_001746164.1:n.2183C>A
XR_001746166.2:n.2478C>A
NM_001077365.2:c.2091C>A MANE Select	NP_001070833.1:p.Leu697=
NM_001077366.2:c.1929C>A	NP_001070834.1:p.Leu643=
NM_001136113.2:c.2091C>A	NP_001129585.1:p.Leu697=
NM_001136114.2:c.1740C>A	NP_001129586.1:p.Leu580=
NM_001353193.2:c.2157C>A	NP_001340122.2:p.Leu719=
NM_001353194.2:c.1929C>A	NP_001340123.1:p.Leu643=
NM_001353195.2:c.1740C>A	NP_001340124.1:p.Leu580=
NM_001353196.2:c.2001C>A	NP_001340125.1:p.Leu667=
NM_001353197.2:c.1995C>A	NP_001340126.2:p.Leu665=
NM_001353198.2:c.1995C>A	NP_001340127.2:p.Leu665=
NM_001353199.2:c.1806C>A	NP_001340128.2:p.Leu602=
NM_001353200.2:c.1635C>A	NP_001340129.1:p.Leu545=
NM_001374689.1:c.2079C>A	NP_001361618.1:p.Leu693=
NM_001374690.1:c.1872C>A	NP_001361619.1:p.Leu624=
NM_001374691.1:c.1740C>A	NP_001361620.1:p.Leu580=
NM_001374692.1:c.1740C>A	NP_001361621.1:p.Leu580=
NM_001374693.1:c.1740C>A	NP_001361622.1:p.Leu580=
NM_001374695.1:c.1701C>A	NP_001361624.1:p.Leu567=
NM_007171.4:c.2157C>A	NP_009102.4:p.Leu719=
NR_148391.2:n.2125C>A
NR_148392.2:n.2343C>A
NR_148393.2:n.2264C>A
NR_148394.2:n.2018C>A
NR_148395.2:n.2416C>A
NR_148396.2:n.2050C>A
NR_148397.2:n.2175C>A
NR_148398.2:n.2130C>A
NR_148399.2:n.2656C>A
NR_148400.2:n.2255C>A