Canonical Allele Identifier: CA375312072

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394319C>A (hg19) ; chr9:g.131518932C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518932C>A , CM000671.2:g.131518932C>A	GRCh38
NC_000009.11:g.134394319C>A , CM000671.1:g.134394319C>A	GRCh37
NC_000009.10:g.133384140C>A	NCBI36
NG_008896.1:g.21031C>A
NG_008896.2:g.21031C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1299C>A	ENSP00000343034.7:p.Asn433Lys
ENST00000404875.7:n.2001C>A
ENST00000423007.6:c.1518C>A	ENSP00000404119.2:p.Asn506Lys
ENST00000677295.2:c.*1805C>A	ENSP00000504346.2:n.*1805C>A
ENST00000678264.2:c.*1644C>A	ENSP00000503157.2:n.*1644C>A
ENST00000682070.1:n.1926C>A
ENST00000682539.1:c.399C>A
ENST00000682813.1:n.1865C>A
ENST00000683392.1:n.4208C>A
ENST00000683712.1:n.1866C>A
ENST00000683900.1:n.3361C>A
ENST00000684062.1:n.2127C>A
ENST00000684579.1:n.3307C>A
ENST00000684679.1:n.688C>A
ENST00000341012.12:c.1299C>A	ENSP00000343034.7:p.Asn433Lys
ENST00000372220.5:c.330C>A	ENSP00000361294.5:p.Asn110Lys
ENST00000372228.9:c.1527C>A	ENSP00000361302.3:p.Asn509Lys
ENST00000402686.8:c.1461C>A MANE Select	ENSP00000385797.4:p.Asn487Lys
ENST00000676640.1:c.1461C>A	ENSP00000503281.1:p.Asn487Lys
ENST00000676803.1:c.636C>A	ENSP00000503093.1:p.Asn212Lys
ENST00000676835.1:c.*676C>A	ENSP00000502911.1:n.*676C>A
ENST00000677029.1:c.1005C>A	ENSP00000502936.1:p.Asn335Lys
ENST00000677099.1:c.*1171C>A	ENSP00000504553.1:n.*1171C>A
ENST00000677216.1:c.1110C>A	ENSP00000503772.1:p.Asn370Lys
ENST00000677221.1:n.486C>A
ENST00000677295.1:c.*838C>A	ENSP00000504346.1:n.*838C>A
ENST00000677444.1:c.1406C>A
ENST00000677586.1:n.942C>A
ENST00000677626.1:c.1110C>A	ENSP00000503552.1:p.Asn370Lys
ENST00000677677.1:n.1421C>A
ENST00000677853.1:c.*469C>A	ENSP00000503488.1:n.*469C>A
ENST00000678202.1:n.620C>A
ENST00000678264.1:c.*838C>A	ENSP00000503157.1:n.*838C>A
ENST00000678303.1:c.1371C>A	ENSP00000503696.1:p.Asn457Lys
ENST00000678366.1:c.*1710C>A	ENSP00000504353.1:n.*1710C>A
ENST00000678546.1:c.*1406C>A	ENSP00000503062.1:n.*1406C>A
ENST00000678548.1:c.*1533C>A	ENSP00000503934.1:n.*1533C>A
ENST00000678626.1:n.1297C>A
ENST00000678733.1:c.542C>A
ENST00000678739.1:c.*1787C>A	ENSP00000503806.1:n.*1787C>A
ENST00000678833.1:c.*908C>A	ENSP00000503893.1:n.*908C>A
ENST00000679023.1:c.1299C>A	ENSP00000503718.1:p.Asn433Lys
ENST00000679076.1:c.1080C>A
ENST00000679111.1:c.*217C>A	ENSP00000504257.1:n.*217C>A
ENST00000679189.1:c.1110C>A	ENSP00000503356.1:p.Asn370Lys
ENST00000341012.11:c.1299C>A	ENSP00000343034.7:p.Asn433Lys
ENST00000372220.4:c.324C>A	ENSP00000361294.4:p.Asn108Lys
ENST00000372228.7:c.1527C>A	ENSP00000361302.3:p.Asn509Lys
ENST00000402686.7:c.1461C>A	ENSP00000385797.3:p.Asn487Lys
ENST00000404875.6:c.1110C>A	ENSP00000384531.2:p.Asn370Lys
ENST00000423007.5:c.1461C>A	ENSP00000404119.1:p.Asn487Lys
ENST00000467848.1:n.165C>A
ENST00000485278.5:n.2016C>A
NM_001077365.1:c.1461C>A	NP_001070833.1:p.Asn487Lys
NM_001077366.1:c.1299C>A	NP_001070834.1:p.Asn433Lys
NM_001136113.1:c.1461C>A	NP_001129585.1:p.Asn487Lys
NM_001136114.1:c.1110C>A	NP_001129586.1:p.Asn370Lys
NM_007171.3:c.1527C>A	NP_009102.3:p.Asn509Lys
XM_005272156.1:c.1527C>A	XP_005272213.1:p.Asn509Lys
XM_005272158.1:c.1365C>A	XP_005272215.1:p.Asn455Lys
XM_005272159.1:c.1176C>A	XP_005272216.1:p.Asn392Lys
XM_005272162.1:c.330C>A	XP_005272219.1:p.Asn110Lys
XM_006716932.1:c.1176C>A	XP_006716995.1:p.Asn392Lys
XM_011518140.1:c.1380C>A	XP_011516442.1:p.Asn460Lys
XM_011518141.1:c.1314C>A	XP_011516443.1:p.Asn438Lys
XM_011518142.1:c.1218C>A	XP_011516444.1:p.Asn406Lys
XM_011518143.1:c.1212C>A	XP_011516445.1:p.Asn404Lys
XM_011518145.1:c.1071C>A	XP_011516447.1:p.Asn357Lys
XM_011518147.1:c.399C>A	XP_011516449.1:p.Asn133Lys
XR_929703.1:n.1703C>A
NM_001353193.1:c.1527C>A	NP_001340122.1:p.Asn509Lys
NM_001353194.1:c.1299C>A	NP_001340123.1:p.Asn433Lys
NM_001353195.1:c.1110C>A	NP_001340124.1:p.Asn370Lys
NM_001353196.1:c.1371C>A	NP_001340125.1:p.Asn457Lys
NM_001353197.1:c.1365C>A	NP_001340126.1:p.Asn455Lys
NM_001353198.1:c.1365C>A	NP_001340127.1:p.Asn455Lys
NM_001353199.1:c.1176C>A	NP_001340128.1:p.Asn392Lys
NM_001353200.1:c.1005C>A	NP_001340129.1:p.Asn335Lys
NR_148391.1:n.1511C>A
NR_148392.1:n.1729C>A
NR_148393.1:n.1650C>A
NR_148394.1:n.1404C>A
NR_148395.1:n.1802C>A
NR_148396.1:n.1436C>A
NR_148397.1:n.1561C>A
NR_148398.1:n.1516C>A
NR_148399.1:n.2042C>A
NR_148400.1:n.1641C>A
XM_005272162.3:c.330C>A	XP_005272219.1:p.Asn110Lys
XM_006716932.2:c.1176C>A	XP_006716995.1:p.Asn392Lys
XM_011518140.2:c.1380C>A	XP_011516442.1:p.Asn460Lys
XM_011518141.2:c.1314C>A	XP_011516443.1:p.Asn438Lys
XM_011518142.2:c.1218C>A	XP_011516444.1:p.Asn406Lys
XM_011518143.2:c.1212C>A	XP_011516445.1:p.Asn404Lys
XM_011518145.2:c.1071C>A	XP_011516447.1:p.Asn357Lys
XM_017014205.2:c.330C>A	XP_016869694.1:p.Asn110Lys
XM_024447380.1:c.330C>A	XP_024303148.1:p.Asn110Lys
XM_024447381.1:c.636C>A	XP_024303149.1:p.Asn212Lys
XM_024447382.1:c.330C>A	XP_024303150.1:p.Asn110Lys
XR_001746160.2:n.1631C>A
XR_001746162.2:n.1836C>A
XR_001746164.1:n.1553C>A
XR_001746166.2:n.1848C>A
NM_001077365.2:c.1461C>A MANE Select	NP_001070833.1:p.Asn487Lys
NM_001077366.2:c.1299C>A	NP_001070834.1:p.Asn433Lys
NM_001136113.2:c.1461C>A	NP_001129585.1:p.Asn487Lys
NM_001136114.2:c.1110C>A	NP_001129586.1:p.Asn370Lys
NM_001353193.2:c.1527C>A	NP_001340122.2:p.Asn509Lys
NM_001353194.2:c.1299C>A	NP_001340123.1:p.Asn433Lys
NM_001353195.2:c.1110C>A	NP_001340124.1:p.Asn370Lys
NM_001353196.2:c.1371C>A	NP_001340125.1:p.Asn457Lys
NM_001353197.2:c.1365C>A	NP_001340126.2:p.Asn455Lys
NM_001353198.2:c.1365C>A	NP_001340127.2:p.Asn455Lys
NM_001353199.2:c.1176C>A	NP_001340128.2:p.Asn392Lys
NM_001353200.2:c.1005C>A	NP_001340129.1:p.Asn335Lys
NM_001374689.1:c.1449C>A	NP_001361618.1:p.Asn483Lys
NM_001374690.1:c.1365+395C>A	NP_001361619.1:n.1365+395C>A
NM_001374691.1:c.1110C>A	NP_001361620.1:p.Asn370Lys
NM_001374692.1:c.1110C>A	NP_001361621.1:p.Asn370Lys
NM_001374693.1:c.1110C>A	NP_001361622.1:p.Asn370Lys
NM_001374695.1:c.1071C>A	NP_001361624.1:p.Asn357Lys
NM_007171.4:c.1527C>A	NP_009102.4:p.Asn509Lys
NR_148391.2:n.1495C>A
NR_148392.2:n.1713C>A
NR_148393.2:n.1634C>A
NR_148394.2:n.1388C>A
NR_148395.2:n.1786C>A
NR_148396.2:n.1420C>A
NR_148397.2:n.1545C>A
NR_148398.2:n.1500C>A
NR_148399.2:n.2026C>A
NR_148400.2:n.1625C>A