Canonical Allele Identifier: CA046765

Gene: DSP

Linked Data

• ClinVar Variation Id: 1448872
• ClinVar RCV Id: RCV002004461
• dbSNP Id: rs776533737
• ExAC: 6:7583562 G / T
• gnomAD v2: 6-7583562-G-T
• gnomAD v4: 6-7583329-G-T
• MyVariant Identifiers: chr6:g.7583562G>T (hg19) ; chr6:g.7583329G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583329G>T , CM000668.2:g.7583329G>T	GRCh38
NC_000006.11:g.7583562G>T , CM000668.1:g.7583562G>T	GRCh37
NC_000006.10:g.7528561G>T	NCBI36
NG_008803.1:g.46693G>T , LRG_423:g.46693G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4738G>T	ENSP00000518230.1:p.Ala1580Ser
ENST00000379802.8:c.6067G>T MANE Select	ENSP00000369129.3:p.Ala2023Ser
ENST00000379802.7:c.6067G>T	ENSP00000369129.3:p.Ala2023Ser
ENST00000418664.2:c.4270G>T	ENSP00000396591.2:p.Ala1424Ser
NM_001008844.1:c.4270G>T	NP_001008844.1:p.Ala1424Ser
NM_004415.2:c.6067G>T , LRG_423t1:c.6067G>T	NP_004406.2:p.Ala2023Ser
XM_011514323.1:c.4738G>T	XP_011512625.1:p.Ala1580Ser
NM_001008844.2:c.4270G>T	NP_001008844.1:p.Ala1424Ser
NM_001319034.1:c.4738G>T	NP_001305963.1:p.Ala1580Ser
NM_004415.3:c.6067G>T	NP_004406.2:p.Ala2023Ser
NM_004415.4:c.6067G>T MANE Select	NP_004406.2:p.Ala2023Ser
NM_001008844.3:c.4270G>T	NP_001008844.1:p.Ala1424Ser
NM_001319034.2:c.4738G>T	NP_001305963.1:p.Ala1580Ser