Canonical Allele Identifier: CA133972604

Gene: DSP

Linked Data

• ClinVar Variation Id: 2925389
• ClinVar RCV Id: RCV003781043
• dbSNP Id: rs201774541
• gnomAD v3: 6-7583139-G-A
• gnomAD v4: 6-7583139-G-A
• MyVariant Identifiers: chr6:g.7583372G>A (hg19) ; chr6:g.7583139G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583139G>A , CM000668.2:g.7583139G>A	GRCh38
NC_000006.11:g.7583372G>A , CM000668.1:g.7583372G>A	GRCh37
NC_000006.10:g.7528371G>A	NCBI36
NG_008803.1:g.46503G>A , LRG_423:g.46503G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4548G>A	ENSP00000518230.1:p.Trp1516Ter
ENST00000379802.8:c.5877G>A MANE Select	ENSP00000369129.3:p.Trp1959Ter
ENST00000379802.7:c.5877G>A	ENSP00000369129.3:p.Trp1959Ter
ENST00000418664.2:c.4080G>A	ENSP00000396591.2:p.Trp1360Ter
NM_001008844.1:c.4080G>A	NP_001008844.1:p.Trp1360Ter
NM_004415.2:c.5877G>A , LRG_423t1:c.5877G>A	NP_004406.2:p.Trp1959Ter
XM_011514323.1:c.4548G>A	XP_011512625.1:p.Trp1516Ter
NM_001008844.2:c.4080G>A	NP_001008844.1:p.Trp1360Ter
NM_001319034.1:c.4548G>A	NP_001305963.1:p.Trp1516Ter
NM_004415.3:c.5877G>A	NP_004406.2:p.Trp1959Ter
NM_004415.4:c.5877G>A MANE Select	NP_004406.2:p.Trp1959Ter
NM_001008844.3:c.4080G>A	NP_001008844.1:p.Trp1360Ter
NM_001319034.2:c.4548G>A	NP_001305963.1:p.Trp1516Ter