Canonical Allele Identifier: CA031381

Gene: DSP

Linked Data

• ClinVar Variation Id: 838465
• ClinVar RCV Id: RCV001040013 ; RCV001177126 ; RCV002479257 ; RCV002416342
• dbSNP Id: rs749238502
• ExAC: 6:7572201 G / A
• gnomAD v2: 6-7572201-G-A
• gnomAD v3: 6-7571968-G-A
• gnomAD v4: 6-7571968-G-A
• MyVariant Identifiers: chr6:g.7572201G>A (hg19) ; chr6:g.7571968G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7571968G>A , CM000668.2:g.7571968G>A	GRCh38
NC_000006.11:g.7572201G>A , CM000668.1:g.7572201G>A	GRCh37
NC_000006.10:g.7517200G>A	NCBI36
NG_008803.1:g.35332G>A , LRG_423:g.35332G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.2030G>A	ENSP00000518230.1:p.Arg677Lys
ENST00000684395.1:n.671G>A
ENST00000379802.8:c.2030G>A MANE Select	ENSP00000369129.3:p.Arg677Lys
ENST00000379802.7:c.2030G>A	ENSP00000369129.3:p.Arg677Lys
ENST00000418664.2:c.2030G>A	ENSP00000396591.2:p.Arg677Lys
NM_001008844.1:c.2030G>A	NP_001008844.1:p.Arg677Lys
NM_004415.2:c.2030G>A , LRG_423t1:c.2030G>A	NP_004406.2:p.Arg677Lys
XM_011514323.1:c.2030G>A	XP_011512625.1:p.Arg677Lys
NM_001008844.2:c.2030G>A	NP_001008844.1:p.Arg677Lys
NM_001319034.1:c.2030G>A	NP_001305963.1:p.Arg677Lys
NM_004415.3:c.2030G>A	NP_004406.2:p.Arg677Lys
NM_004415.4:c.2030G>A MANE Select	NP_004406.2:p.Arg677Lys
NM_001008844.3:c.2030G>A	NP_001008844.1:p.Arg677Lys
NM_001319034.2:c.2030G>A	NP_001305963.1:p.Arg677Lys