Canonical Allele Identifier: CA046586

Gene: DSP

Linked Data

• ClinVar Variation Id: 465902
• ClinVar RCV Id: RCV000621387 ; RCV000546727 ; RCV000825753 ; RCV001181858 ; RCV001547589
• dbSNP Id: rs764692193
• ExAC: 6:7583505 G / T
• gnomAD v2: 6-7583505-G-T
• gnomAD v3: 6-7583272-G-T
• gnomAD v4: 6-7583272-G-T
• MyVariant Identifiers: chr6:g.7583505G>T (hg19) ; chr6:g.7583272G>T (hg38)
• PubMed: PMID:21636032

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583272G>T , CM000668.2:g.7583272G>T	GRCh38
NC_000006.11:g.7583505G>T , CM000668.1:g.7583505G>T	GRCh37
NC_000006.10:g.7528504G>T	NCBI36
NG_008803.1:g.46636G>T , LRG_423:g.46636G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4681G>T	ENSP00000518230.1:p.Val1561Phe
ENST00000379802.8:c.6010G>T MANE Select	ENSP00000369129.3:p.Val2004Phe
ENST00000379802.7:c.6010G>T	ENSP00000369129.3:p.Val2004Phe
ENST00000418664.2:c.4213G>T	ENSP00000396591.2:p.Val1405Phe
NM_001008844.1:c.4213G>T	NP_001008844.1:p.Val1405Phe
NM_004415.2:c.6010G>T , LRG_423t1:c.6010G>T	NP_004406.2:p.Val2004Phe
XM_011514323.1:c.4681G>T	XP_011512625.1:p.Val1561Phe
NM_001008844.2:c.4213G>T	NP_001008844.1:p.Val1405Phe
NM_001319034.1:c.4681G>T	NP_001305963.1:p.Val1561Phe
NM_004415.3:c.6010G>T	NP_004406.2:p.Val2004Phe
NM_004415.4:c.6010G>T MANE Select	NP_004406.2:p.Val2004Phe
NM_001008844.3:c.4213G>T	NP_001008844.1:p.Val1405Phe
NM_001319034.2:c.4681G>T	NP_001305963.1:p.Val1561Phe