Canonical Allele Identifier: CA382914863

Gene: DPAGT1

Linked Data

• gnomAD v4: 11-119100403-G-C
• MyVariant Identifiers: chr11:g.118971113G>C (hg19) ; chr11:g.119100403G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119100403G>C , CM000673.2:g.119100403G>C	GRCh38
NC_000011.9:g.118971113G>C , CM000673.1:g.118971113G>C	GRCh37
NC_000011.8:g.118476323G>C	NCBI36
NG_008918.1:g.6673C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445653.6:n.678C>G
ENST00000530052.2:n.1244C>G
ENST00000682191.1:n.704C>G
ENST00000682192.1:n.704C>G
ENST00000682232.1:c.*207C>G	ENSP00000507302.1:n.*207C>G
ENST00000682326.1:c.502C>G	ENSP00000508129.1:p.Leu168Val
ENST00000682404.1:n.1244C>G
ENST00000682517.1:n.1244C>G
ENST00000682652.1:n.1473C>G
ENST00000682665.1:n.899C>G
ENST00000682691.1:n.899C>G
ENST00000682791.1:c.415C>G	ENSP00000507312.1:p.Leu139Val
ENST00000682811.1:c.502C>G	ENSP00000508196.1:p.Leu168Val
ENST00000682883.1:n.805C>G
ENST00000682946.1:c.502C>G	ENSP00000506856.1:p.Leu168Val
ENST00000683143.1:c.*207C>G	ENSP00000507168.1:n.*207C>G
ENST00000683373.1:n.704C>G
ENST00000683558.1:n.704C>G
ENST00000683567.1:n.729C>G
ENST00000683955.1:n.899C>G
ENST00000684142.1:c.*177C>G	ENSP00000508008.1:n.*177C>G
ENST00000684252.1:n.899C>G
ENST00000684255.1:c.*207C>G	ENSP00000507398.1:n.*207C>G
ENST00000684315.1:n.1235C>G
ENST00000684345.1:c.*177C>G	ENSP00000507163.1:n.*177C>G
ENST00000684499.1:c.*607C>G	ENSP00000506800.1:n.*607C>G
ENST00000684682.1:c.167C>G	ENSP00000507326.1:p.Pro56Arg
ENST00000354202.9:c.502C>G MANE Select	ENSP00000346142.4:p.Leu168Val
ENST00000636404.1:c.6C>G
ENST00000638850.1:c.6C>G
ENST00000639704.1:c.409C>G	ENSP00000491336.1:p.Leu137Val
ENST00000640102.1:c.*155C>G	ENSP00000492027.1:n.*155C>G
ENST00000640747.1:c.*177C>G	ENSP00000492730.1:n.*177C>G
ENST00000354202.8:c.502C>G	ENSP00000346142.4:p.Leu168Val
ENST00000392834.7:c.*207C>G	ENSP00000376579.3:n.*207C>G
ENST00000409993.6:c.502C>G	ENSP00000386597.2:p.Leu168Val
ENST00000414373.5:c.*248C>G	ENSP00000402019.1:n.*248C>G
ENST00000442480.1:c.352C>G	ENSP00000406591.1:p.Leu118Val
ENST00000461999.1:n.7C>G
ENST00000481084.5:n.1131C>G
ENST00000525456.5:n.505C>G
ENST00000530052.1:n.400C>G
ENST00000533687.1:n.514C>G
NM_001382.3:c.502C>G	NP_001373.2:p.Leu168Val
XM_005271422.2:c.502C>G	XP_005271479.1:p.Leu168Val
XM_011542648.1:c.181C>G	XP_011540950.1:p.Leu61Val
XR_947801.1:n.938C>G
XM_005271422.3:c.502C>G	XP_005271479.1:p.Leu168Val
XM_011542648.2:c.181C>G	XP_011540950.1:p.Leu61Val
XM_017017293.2:c.181C>G	XP_016872782.1:p.Leu61Val
XM_017017294.2:c.502C>G	XP_016872783.1:p.Leu168Val
XM_017017295.1:c.-15C>G	XP_016872784.1:n.-15C>G
XR_001747785.2:n.725C>G
XR_947801.2:n.725C>G
NM_001382.4:c.502C>G MANE Select	NP_001373.2:p.Leu168Val