Canonical Allele Identifier: CA467423843

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396792C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521405C>A , CM000671.2:g.131521405C>A	GRCh38
NC_000009.11:g.134396792C>A , CM000671.1:g.134396792C>A	GRCh37
NC_000009.10:g.133386613C>A	NCBI36
NG_008896.1:g.23504C>A
NG_008896.2:g.23504C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1596C>A	ENSP00000343034.7:p.Ala532=
ENST00000404875.7:n.2298C>A
ENST00000423007.6:c.1815C>A	ENSP00000404119.2:p.Ala605=
ENST00000677295.2:c.*2102C>A	ENSP00000504346.2:n.*2102C>A
ENST00000678264.2:c.*1941C>A	ENSP00000503157.2:n.*1941C>A
ENST00000682070.1:n.2223C>A
ENST00000682813.1:n.2162C>A
ENST00000683392.1:n.4505C>A
ENST00000683712.1:n.2163C>A
ENST00000683900.1:n.3658C>A
ENST00000684062.1:n.2424C>A
ENST00000684579.1:n.3604C>A
ENST00000684679.1:n.985C>A
ENST00000341012.12:c.1596C>A	ENSP00000343034.7:p.Ala532=
ENST00000372220.5:c.627C>A	ENSP00000361294.5:p.Ala209=
ENST00000372228.9:c.1824C>A	ENSP00000361302.3:p.Ala608=
ENST00000402686.8:c.1758C>A MANE Select	ENSP00000385797.4:p.Ala586=
ENST00000676640.1:c.1758C>A	ENSP00000503281.1:p.Ala586=
ENST00000676803.1:c.819C>A	ENSP00000503093.1:p.Ala273=
ENST00000676835.1:c.*973C>A	ENSP00000502911.1:n.*973C>A
ENST00000677029.1:c.1302C>A	ENSP00000502936.1:p.Ala434=
ENST00000677099.1:c.*1468C>A	ENSP00000504553.1:n.*1468C>A
ENST00000677216.1:c.1407C>A	ENSP00000503772.1:p.Ala469=
ENST00000677221.1:n.783C>A
ENST00000677295.1:c.*1135C>A	ENSP00000504346.1:n.*1135C>A
ENST00000677444.1:c.1703C>A
ENST00000677586.1:n.1125C>A
ENST00000677626.1:c.1407C>A	ENSP00000503552.1:p.Ala469=
ENST00000677853.1:c.*766C>A	ENSP00000503488.1:n.*766C>A
ENST00000678202.1:n.917C>A
ENST00000678264.1:c.*1135C>A	ENSP00000503157.1:n.*1135C>A
ENST00000678303.1:c.1668C>A	ENSP00000503696.1:p.Ala556=
ENST00000678366.1:c.*2007C>A	ENSP00000504353.1:n.*2007C>A
ENST00000678546.1:c.*1703C>A	ENSP00000503062.1:n.*1703C>A
ENST00000678548.1:c.*1830C>A	ENSP00000503934.1:n.*1830C>A
ENST00000678626.1:n.1594C>A
ENST00000678739.1:c.*2079C>A	ENSP00000503806.1:n.*2079C>A
ENST00000678833.1:c.*1510C>A	ENSP00000503893.1:n.*1510C>A
ENST00000679023.1:c.1596C>A	ENSP00000503718.1:p.Ala532=
ENST00000679076.1:c.1377C>A
ENST00000679111.1:c.*514C>A	ENSP00000504257.1:n.*514C>A
ENST00000679189.1:c.1407C>A	ENSP00000503356.1:p.Ala469=
ENST00000341012.11:c.1596C>A	ENSP00000343034.7:p.Ala532=
ENST00000372220.4:c.621C>A	ENSP00000361294.4:p.Ala207=
ENST00000372228.7:c.1824C>A	ENSP00000361302.3:p.Ala608=
ENST00000402686.7:c.1758C>A	ENSP00000385797.3:p.Ala586=
ENST00000404875.6:c.1407C>A	ENSP00000384531.2:p.Ala469=
ENST00000423007.5:c.1758C>A	ENSP00000404119.1:p.Ala586=
ENST00000485278.5:n.2308C>A
ENST00000494883.1:n.301C>A
NM_001077365.1:c.1758C>A	NP_001070833.1:p.Ala586=
NM_001077366.1:c.1596C>A	NP_001070834.1:p.Ala532=
NM_001136113.1:c.1758C>A	NP_001129585.1:p.Ala586=
NM_001136114.1:c.1407C>A	NP_001129586.1:p.Ala469=
NM_007171.3:c.1824C>A	NP_009102.3:p.Ala608=
XM_005272156.1:c.1824C>A	XP_005272213.1:p.Ala608=
XM_005272158.1:c.1662C>A	XP_005272215.1:p.Ala554=
XM_005272159.1:c.1473C>A	XP_005272216.1:p.Ala491=
XM_005272162.1:c.627C>A	XP_005272219.1:p.Ala209=
XM_006716932.1:c.1473C>A	XP_006716995.1:p.Ala491=
XM_011518140.1:c.1677C>A	XP_011516442.1:p.Ala559=
XM_011518141.1:c.1611C>A	XP_011516443.1:p.Ala537=
XM_011518142.1:c.1515C>A	XP_011516444.1:p.Ala505=
XM_011518143.1:c.1509C>A	XP_011516445.1:p.Ala503=
XM_011518145.1:c.1368C>A	XP_011516447.1:p.Ala456=
XM_011518147.1:c.696C>A	XP_011516449.1:p.Ala232=
XR_929703.1:n.2000C>A
NM_001353193.1:c.1824C>A	NP_001340122.1:p.Ala608=
NM_001353194.1:c.1596C>A	NP_001340123.1:p.Ala532=
NM_001353195.1:c.1407C>A	NP_001340124.1:p.Ala469=
NM_001353196.1:c.1668C>A	NP_001340125.1:p.Ala556=
NM_001353197.1:c.1662C>A	NP_001340126.1:p.Ala554=
NM_001353198.1:c.1662C>A	NP_001340127.1:p.Ala554=
NM_001353199.1:c.1473C>A	NP_001340128.1:p.Ala491=
NM_001353200.1:c.1302C>A	NP_001340129.1:p.Ala434=
NR_148391.1:n.1808C>A
NR_148392.1:n.2026C>A
NR_148393.1:n.1947C>A
NR_148394.1:n.1701C>A
NR_148395.1:n.2099C>A
NR_148396.1:n.1733C>A
NR_148397.1:n.1858C>A
NR_148398.1:n.1813C>A
NR_148399.1:n.2339C>A
NR_148400.1:n.1938C>A
XM_005272162.3:c.627C>A	XP_005272219.1:p.Ala209=
XM_006716932.2:c.1473C>A	XP_006716995.1:p.Ala491=
XM_011518140.2:c.1677C>A	XP_011516442.1:p.Ala559=
XM_011518141.2:c.1611C>A	XP_011516443.1:p.Ala537=
XM_011518142.2:c.1515C>A	XP_011516444.1:p.Ala505=
XM_011518143.2:c.1509C>A	XP_011516445.1:p.Ala503=
XM_011518145.2:c.1368C>A	XP_011516447.1:p.Ala456=
XM_017014205.2:c.627C>A	XP_016869694.1:p.Ala209=
XM_024447380.1:c.627C>A	XP_024303148.1:p.Ala209=
XM_024447381.1:c.933C>A	XP_024303149.1:p.Ala311=
XM_024447382.1:c.627C>A	XP_024303150.1:p.Ala209=
XR_001746160.2:n.1928C>A
XR_001746162.2:n.2133C>A
XR_001746164.1:n.1850C>A
XR_001746166.2:n.2145C>A
NM_001077365.2:c.1758C>A MANE Select	NP_001070833.1:p.Ala586=
NM_001077366.2:c.1596C>A	NP_001070834.1:p.Ala532=
NM_001136113.2:c.1758C>A	NP_001129585.1:p.Ala586=
NM_001136114.2:c.1407C>A	NP_001129586.1:p.Ala469=
NM_001353193.2:c.1824C>A	NP_001340122.2:p.Ala608=
NM_001353194.2:c.1596C>A	NP_001340123.1:p.Ala532=
NM_001353195.2:c.1407C>A	NP_001340124.1:p.Ala469=
NM_001353196.2:c.1668C>A	NP_001340125.1:p.Ala556=
NM_001353197.2:c.1662C>A	NP_001340126.2:p.Ala554=
NM_001353198.2:c.1662C>A	NP_001340127.2:p.Ala554=
NM_001353199.2:c.1473C>A	NP_001340128.2:p.Ala491=
NM_001353200.2:c.1302C>A	NP_001340129.1:p.Ala434=
NM_001374689.1:c.1746C>A	NP_001361618.1:p.Ala582=
NM_001374690.1:c.1539C>A	NP_001361619.1:p.Ala513=
NM_001374691.1:c.1407C>A	NP_001361620.1:p.Ala469=
NM_001374692.1:c.1407C>A	NP_001361621.1:p.Ala469=
NM_001374693.1:c.1407C>A	NP_001361622.1:p.Ala469=
NM_001374695.1:c.1368C>A	NP_001361624.1:p.Ala456=
NM_007171.4:c.1824C>A	NP_009102.4:p.Ala608=
NR_148391.2:n.1792C>A
NR_148392.2:n.2010C>A
NR_148393.2:n.1931C>A
NR_148394.2:n.1685C>A
NR_148395.2:n.2083C>A
NR_148396.2:n.1717C>A
NR_148397.2:n.1842C>A
NR_148398.2:n.1797C>A
NR_148399.2:n.2323C>A
NR_148400.2:n.1922C>A