Canonical Allele Identifier: CA047213

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583531A>G , CM000668.2:g.7583531A>G	GRCh38
NC_000006.11:g.7583764A>G , CM000668.1:g.7583764A>G	GRCh37
NC_000006.10:g.7528763A>G	NCBI36
NG_008803.1:g.46895A>G , LRG_423:g.46895A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004415.4:c.6269A>G MANE Select	NP_004406.2:p.Glu2090Gly
ENST00000379802.8:c.6269A>G MANE Select	ENSP00000369129.3:p.Glu2090Gly
NM_001008844.1:c.4472A>G	NP_001008844.1:p.Glu1491Gly
NM_001008844.2:c.4472A>G	NP_001008844.1:p.Glu1491Gly
NM_001008844.3:c.4472A>G	NP_001008844.1:p.Glu1491Gly
NM_001319034.1:c.4940A>G	NP_001305963.1:p.Glu1647Gly
NM_001319034.2:c.4940A>G	NP_001305963.1:p.Glu1647Gly
NM_004415.2:c.6269A>G , LRG_423t1:c.6269A>G	NP_004406.2:p.Glu2090Gly
NM_004415.3:c.6269A>G	NP_004406.2:p.Glu2090Gly
ENST00000379802.7:c.6269A>G	ENSP00000369129.3:p.Glu2090Gly
ENST00000418664.2:c.4472A>G	ENSP00000396591.2:p.Glu1491Gly
ENST00000710359.1:c.4940A>G	ENSP00000518230.1:p.Glu1647Gly
XM_011514323.1:c.4940A>G	XP_011512625.1:p.Glu1647Gly