Canonical Allele Identifier: CA133974331

Gene: DSP

Linked Data

• ClinVar Variation Id: 922295
• ClinVar RCV Id: RCV001182307 ; RCV002559018 ; RCV004008287
• dbSNP Id: rs1043978096
• gnomAD v2: 6-7583595-G-A
• gnomAD v4: 6-7583362-G-A
• MyVariant Identifiers: chr6:g.7583595G>A (hg19) ; chr6:g.7583362G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583362G>A , CM000668.2:g.7583362G>A	GRCh38
NC_000006.11:g.7583595G>A , CM000668.1:g.7583595G>A	GRCh37
NC_000006.10:g.7528594G>A	NCBI36
NG_008803.1:g.46726G>A , LRG_423:g.46726G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4771G>A	ENSP00000518230.1:p.Ala1591Thr
ENST00000379802.8:c.6100G>A MANE Select	ENSP00000369129.3:p.Ala2034Thr
ENST00000379802.7:c.6100G>A	ENSP00000369129.3:p.Ala2034Thr
ENST00000418664.2:c.4303G>A	ENSP00000396591.2:p.Ala1435Thr
NM_001008844.1:c.4303G>A	NP_001008844.1:p.Ala1435Thr
NM_004415.2:c.6100G>A , LRG_423t1:c.6100G>A	NP_004406.2:p.Ala2034Thr
XM_011514323.1:c.4771G>A	XP_011512625.1:p.Ala1591Thr
NM_001008844.2:c.4303G>A	NP_001008844.1:p.Ala1435Thr
NM_001319034.1:c.4771G>A	NP_001305963.1:p.Ala1591Thr
NM_004415.3:c.6100G>A	NP_004406.2:p.Ala2034Thr
NM_004415.4:c.6100G>A MANE Select	NP_004406.2:p.Ala2034Thr
NM_001008844.3:c.4303G>A	NP_001008844.1:p.Ala1435Thr
NM_001319034.2:c.4771G>A	NP_001305963.1:p.Ala1591Thr