Canonical Allele Identifier: CA382914234

Gene: DPAGT1

Linked Data

• ClinVar Variation Id: 2016222
• ClinVar RCV Id: RCV002843789
• MyVariant Identifiers: chr11:g.118971023A>T (hg19) ; chr11:g.119100313A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119100313A>T , CM000673.2:g.119100313A>T	GRCh38
NC_000011.9:g.118971023A>T , CM000673.1:g.118971023A>T	GRCh37
NC_000011.8:g.118476233A>T	NCBI36
NG_008918.1:g.6763T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000445653.6:n.768T>A
ENST00000530052.2:n.1334T>A
ENST00000682191.1:n.794T>A
ENST00000682192.1:n.794T>A
ENST00000682232.1:c.*297T>A	ENSP00000507302.1:n.*297T>A
ENST00000682326.1:c.592T>A	ENSP00000508129.1:p.Ser198Thr
ENST00000682404.1:n.1334T>A
ENST00000682517.1:n.1334T>A
ENST00000682652.1:n.1563T>A
ENST00000682665.1:n.989T>A
ENST00000682691.1:n.989T>A
ENST00000682791.1:c.505T>A	ENSP00000507312.1:p.Ser169Thr
ENST00000682811.1:c.592T>A	ENSP00000508196.1:p.Ser198Thr
ENST00000682883.1:n.895T>A
ENST00000682946.1:c.592T>A	ENSP00000506856.1:p.Ser198Thr
ENST00000683143.1:c.*297T>A	ENSP00000507168.1:n.*297T>A
ENST00000683373.1:n.794T>A
ENST00000683558.1:n.794T>A
ENST00000683567.1:n.819T>A
ENST00000683955.1:n.989T>A
ENST00000684142.1:c.*267T>A	ENSP00000508008.1:n.*267T>A
ENST00000684252.1:n.989T>A
ENST00000684255.1:c.*297T>A	ENSP00000507398.1:n.*297T>A
ENST00000684315.1:n.1325T>A
ENST00000684345.1:c.*267T>A	ENSP00000507163.1:n.*267T>A
ENST00000684499.1:c.*697T>A	ENSP00000506800.1:n.*697T>A
ENST00000684682.1:c.*20T>A	ENSP00000507326.1:n.*20T>A
ENST00000354202.9:c.592T>A MANE Select	ENSP00000346142.4:p.Ser198Thr
ENST00000636404.1:c.96T>A
ENST00000638850.1:c.96T>A
ENST00000639704.1:c.499T>A	ENSP00000491336.1:p.Ser167Thr
ENST00000640102.1:c.*245T>A	ENSP00000492027.1:n.*245T>A
ENST00000640747.1:c.*267T>A	ENSP00000492730.1:n.*267T>A
ENST00000354202.8:c.592T>A	ENSP00000346142.4:p.Ser198Thr
ENST00000392834.7:c.*297T>A	ENSP00000376579.3:n.*297T>A
ENST00000409993.6:c.592T>A	ENSP00000386597.2:p.Ser198Thr
ENST00000414373.5:c.*338T>A	ENSP00000402019.1:n.*338T>A
ENST00000442480.1:c.442T>A	ENSP00000406591.1:p.Ser148Thr
ENST00000461999.1:n.97T>A
ENST00000481084.5:n.1221T>A
ENST00000525456.5:n.595T>A
ENST00000530052.1:n.490T>A
ENST00000533687.1:n.604T>A
NM_001382.3:c.592T>A	NP_001373.2:p.Ser198Thr
XM_005271422.2:c.592T>A	XP_005271479.1:p.Ser198Thr
XM_011542648.1:c.271T>A	XP_011540950.1:p.Ser91Thr
XR_947801.1:n.1028T>A
XM_005271422.3:c.592T>A	XP_005271479.1:p.Ser198Thr
XM_011542648.2:c.271T>A	XP_011540950.1:p.Ser91Thr
XM_017017293.2:c.271T>A	XP_016872782.1:p.Ser91Thr
XM_017017294.2:c.592T>A	XP_016872783.1:p.Ser198Thr
XM_017017295.1:c.76T>A	XP_016872784.1:p.Ser26Thr
XR_001747785.2:n.815T>A
XR_947801.2:n.815T>A
NM_001382.4:c.592T>A MANE Select	NP_001373.2:p.Ser198Thr