Canonical Allele Identifier: CA200797520

Gene: POMT1

Linked Data

• ClinVar Variation Id: 1129201
• ClinVar RCV Id: RCV001462290
• dbSNP Id: rs1007091999
• gnomAD v4: 9-131522111-C-T
• MyVariant Identifiers: chr9:g.134397498C>T (hg19) ; chr9:g.131522111C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522111C>T , CM000671.2:g.131522111C>T	GRCh38
NC_000009.11:g.134397498C>T , CM000671.1:g.134397498C>T	GRCh37
NC_000009.10:g.133387319C>T	NCBI36
NG_008896.1:g.24210C>T
NG_008896.2:g.24210C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1728C>T	ENSP00000343034.7:p.Leu576=
ENST00000404875.7:n.2430C>T
ENST00000423007.6:c.1947C>T	ENSP00000404119.2:p.Leu649=
ENST00000677295.2:c.*2234C>T	ENSP00000504346.2:n.*2234C>T
ENST00000678264.2:c.*2073C>T	ENSP00000503157.2:n.*2073C>T
ENST00000682070.1:n.2291-91C>T
ENST00000682813.1:n.2294C>T
ENST00000683392.1:n.4573-91C>T
ENST00000683712.1:n.2295C>T
ENST00000683900.1:n.3790C>T
ENST00000684062.1:n.2556C>T
ENST00000684579.1:n.3736C>T
ENST00000684679.1:n.1117C>T
ENST00000341012.12:c.1728C>T	ENSP00000343034.7:p.Leu576=
ENST00000372220.5:c.759C>T	ENSP00000361294.5:p.Leu253=
ENST00000372228.9:c.1956C>T	ENSP00000361302.3:p.Leu652=
ENST00000402686.8:c.1890C>T MANE Select	ENSP00000385797.4:p.Leu630=
ENST00000676640.1:c.1890C>T	ENSP00000503281.1:p.Leu630=
ENST00000676803.1:c.951C>T	ENSP00000503093.1:p.Leu317=
ENST00000676835.1:c.*1105C>T	ENSP00000502911.1:n.*1105C>T
ENST00000677029.1:c.1434C>T	ENSP00000502936.1:p.Leu478=
ENST00000677099.1:c.*1600C>T	ENSP00000504553.1:n.*1600C>T
ENST00000677216.1:c.1539C>T	ENSP00000503772.1:p.Leu513=
ENST00000677221.1:n.915C>T
ENST00000677295.1:c.*1203-91C>T	ENSP00000504346.1:n.*1203-91C>T
ENST00000677444.1:c.1835C>T
ENST00000677586.1:n.1257C>T
ENST00000677626.1:c.1539C>T	ENSP00000503552.1:p.Leu513=
ENST00000677853.1:c.*898C>T	ENSP00000503488.1:n.*898C>T
ENST00000678202.1:n.1049C>T
ENST00000678264.1:c.*1267C>T	ENSP00000503157.1:n.*1267C>T
ENST00000678303.1:c.1800C>T	ENSP00000503696.1:p.Leu600=
ENST00000678366.1:c.*2139C>T	ENSP00000504353.1:n.*2139C>T
ENST00000678546.1:c.*1835C>T	ENSP00000503062.1:n.*1835C>T
ENST00000678548.1:c.*2029C>T	ENSP00000503934.1:n.*2029C>T
ENST00000678626.1:n.1726C>T
ENST00000678739.1:c.*2147-91C>T	ENSP00000503806.1:n.*2147-91C>T
ENST00000678833.1:c.*1642C>T	ENSP00000503893.1:n.*1642C>T
ENST00000679023.1:c.1728C>T	ENSP00000503718.1:p.Leu576=
ENST00000679076.1:c.1509C>T
ENST00000679111.1:c.*646C>T	ENSP00000504257.1:n.*646C>T
ENST00000679189.1:c.1539C>T	ENSP00000503356.1:p.Leu513=
ENST00000341012.11:c.1728C>T	ENSP00000343034.7:p.Leu576=
ENST00000372220.4:c.753C>T	ENSP00000361294.4:p.Leu251=
ENST00000372228.7:c.1956C>T	ENSP00000361302.3:p.Leu652=
ENST00000402686.7:c.1890C>T	ENSP00000385797.3:p.Leu630=
ENST00000404875.6:c.1539C>T	ENSP00000384531.2:p.Leu513=
ENST00000423007.5:c.1890C>T	ENSP00000404119.1:p.Leu630=
ENST00000485278.5:n.2440C>T
ENST00000494883.1:n.433C>T
NM_001077365.1:c.1890C>T	NP_001070833.1:p.Leu630=
NM_001077366.1:c.1728C>T	NP_001070834.1:p.Leu576=
NM_001136113.1:c.1890C>T	NP_001129585.1:p.Leu630=
NM_001136114.1:c.1539C>T	NP_001129586.1:p.Leu513=
NM_007171.3:c.1956C>T	NP_009102.3:p.Leu652=
XM_005272156.1:c.1956C>T	XP_005272213.1:p.Leu652=
XM_005272158.1:c.1794C>T	XP_005272215.1:p.Leu598=
XM_005272159.1:c.1605C>T	XP_005272216.1:p.Leu535=
XM_005272162.1:c.759C>T	XP_005272219.1:p.Leu253=
XM_006716932.1:c.1605C>T	XP_006716995.1:p.Leu535=
XM_011518140.1:c.1809C>T	XP_011516442.1:p.Leu603=
XM_011518141.1:c.1743C>T	XP_011516443.1:p.Leu581=
XM_011518142.1:c.1647C>T	XP_011516444.1:p.Leu549=
XM_011518143.1:c.1641C>T	XP_011516445.1:p.Leu547=
XM_011518145.1:c.1500C>T	XP_011516447.1:p.Leu500=
XM_011518147.1:c.828C>T	XP_011516449.1:p.Leu276=
XR_929703.1:n.2132C>T
NM_001353193.1:c.1956C>T	NP_001340122.1:p.Leu652=
NM_001353194.1:c.1728C>T	NP_001340123.1:p.Leu576=
NM_001353195.1:c.1539C>T	NP_001340124.1:p.Leu513=
NM_001353196.1:c.1800C>T	NP_001340125.1:p.Leu600=
NM_001353197.1:c.1794C>T	NP_001340126.1:p.Leu598=
NM_001353198.1:c.1794C>T	NP_001340127.1:p.Leu598=
NM_001353199.1:c.1605C>T	NP_001340128.1:p.Leu535=
NM_001353200.1:c.1434C>T	NP_001340129.1:p.Leu478=
NR_148391.1:n.1940C>T
NR_148392.1:n.2158C>T
NR_148393.1:n.2079C>T
NR_148394.1:n.1833C>T
NR_148395.1:n.2231C>T
NR_148396.1:n.1865C>T
NR_148397.1:n.1990C>T
NR_148398.1:n.1945C>T
NR_148399.1:n.2471C>T
NR_148400.1:n.2070C>T
XM_005272162.3:c.759C>T	XP_005272219.1:p.Leu253=
XM_006716932.2:c.1605C>T	XP_006716995.1:p.Leu535=
XM_011518140.2:c.1809C>T	XP_011516442.1:p.Leu603=
XM_011518141.2:c.1743C>T	XP_011516443.1:p.Leu581=
XM_011518142.2:c.1647C>T	XP_011516444.1:p.Leu549=
XM_011518143.2:c.1641C>T	XP_011516445.1:p.Leu547=
XM_011518145.2:c.1500C>T	XP_011516447.1:p.Leu500=
XM_017014205.2:c.759C>T	XP_016869694.1:p.Leu253=
XM_024447380.1:c.759C>T	XP_024303148.1:p.Leu253=
XM_024447381.1:c.1065C>T	XP_024303149.1:p.Leu355=
XM_024447382.1:c.759C>T	XP_024303150.1:p.Leu253=
XR_001746160.2:n.2060C>T
XR_001746162.2:n.2265C>T
XR_001746164.1:n.1982C>T
XR_001746166.2:n.2277C>T
NM_001077365.2:c.1890C>T MANE Select	NP_001070833.1:p.Leu630=
NM_001077366.2:c.1728C>T	NP_001070834.1:p.Leu576=
NM_001136113.2:c.1890C>T	NP_001129585.1:p.Leu630=
NM_001136114.2:c.1539C>T	NP_001129586.1:p.Leu513=
NM_001353193.2:c.1956C>T	NP_001340122.2:p.Leu652=
NM_001353194.2:c.1728C>T	NP_001340123.1:p.Leu576=
NM_001353195.2:c.1539C>T	NP_001340124.1:p.Leu513=
NM_001353196.2:c.1800C>T	NP_001340125.1:p.Leu600=
NM_001353197.2:c.1794C>T	NP_001340126.2:p.Leu598=
NM_001353198.2:c.1794C>T	NP_001340127.2:p.Leu598=
NM_001353199.2:c.1605C>T	NP_001340128.2:p.Leu535=
NM_001353200.2:c.1434C>T	NP_001340129.1:p.Leu478=
NM_001374689.1:c.1878C>T	NP_001361618.1:p.Leu626=
NM_001374690.1:c.1671C>T	NP_001361619.1:p.Leu557=
NM_001374691.1:c.1539C>T	NP_001361620.1:p.Leu513=
NM_001374692.1:c.1539C>T	NP_001361621.1:p.Leu513=
NM_001374693.1:c.1539C>T	NP_001361622.1:p.Leu513=
NM_001374695.1:c.1500C>T	NP_001361624.1:p.Leu500=
NM_007171.4:c.1956C>T	NP_009102.4:p.Leu652=
NR_148391.2:n.1924C>T
NR_148392.2:n.2142C>T
NR_148393.2:n.2063C>T
NR_148394.2:n.1817C>T
NR_148395.2:n.2215C>T
NR_148396.2:n.1849C>T
NR_148397.2:n.1974C>T
NR_148398.2:n.1929C>T
NR_148399.2:n.2455C>T
NR_148400.2:n.2054C>T