Canonical Allele Identifier: CA2338598392

Gene: DMPK

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45772718G= , CM000681.2:g.45772718G=	GRCh38
NC_000019.9:g.46275976G= , CM000681.1:g.46275976G=	GRCh37
NC_000019.8:g.50967816G=	NCBI36
NG_009784.1:g.14840C=
NG_012745.1:g.1522C=

Transcript Alleles

HGVS	Amino-acid Change
NM_004409.5:c.1267C= MANE Select	NP_004400.4:p.Leu423=
ENST00000291270.9:c.1267C= MANE Select	ENSP00000291270.4:p.Leu423=
NM_001081560.2:c.1252C=	NP_001075029.1:p.Leu418=
NM_001081560.3:c.1252C=	NP_001075029.1:p.Leu418=
NM_001081562.2:c.1252C=	NP_001075031.1:p.Leu418=
NM_001081562.3:c.1252C=	NP_001075031.1:p.Leu418=
NM_001081563.2:c.1297C=	NP_001075032.1:p.Leu433=
NM_001288764.1:c.1345C=	NP_001275693.1:p.Leu449=
NM_001288764.2:c.1345C=	NP_001275693.1:p.Leu449=
NM_001288765.1:c.1000C=	NP_001275694.1:p.Leu334=
NM_001288765.2:c.1000C=	NP_001275694.1:p.Leu334=
NM_001288766.1:c.1252C=	NP_001275695.1:p.Leu418=
NM_001288766.2:c.1252C=	NP_001275695.1:p.Leu418=
NM_004409.4:c.1267C=	NP_004400.4:p.Leu423=
ENST00000291270.8:c.1267C=	ENSP00000291270.3:p.Leu423=
ENST00000343373.10:c.1267C=	ENSP00000345997.4:p.Leu423=
ENST00000343373.8:c.1297C=	ENSP00000345997.3:p.Leu433=
ENST00000343373.9:c.1297C=	ENSP00000345997.3:p.Leu433=
ENST00000354227.9:c.1252C=	ENSP00000346168.5:p.Leu418=
ENST00000447742.6:c.1252C=	ENSP00000413417.1:p.Leu418=
ENST00000458663.6:c.1252C=	ENSP00000401753.1:p.Leu418=
ENST00000588522.5:c.*1089C=	ENSP00000468013.1:n.*1089C=
ENST00000593574.1:c.242C=
ENST00000596686.5:n.1112C=
ENST00000600370.1:n.355C=
ENST00000600370.2:n.1089C=
ENST00000600757.5:c.1282C=	ENSP00000472965.1:p.Leu428=
ENST00000600757.6:n.1841C=
ENST00000618091.4:c.1252C=	ENSP00000482746.1:p.Leu418=
ENST00000674226.1:n.1970C=
ENST00000682259.1:n.1783C=
ENST00000682335.1:n.1841C=
ENST00000682436.1:n.134C=
ENST00000682994.1:n.2695C=
ENST00000683086.1:c.1267C=	ENSP00000508381.1:p.Leu423=
ENST00000683830.1:n.2176C=
ENST00000684007.1:n.1574C=
ENST00000684672.1:n.1618C=