Canonical Allele Identifier: CA052294

Gene: DSP

Linked Data

• ClinVar Variation Id: 1172021
• ClinVar RCV Id: RCV001525604
• dbSNP Id: rs755395389
• ExAC: 6:7585917 G / A
• gnomAD v2: 6-7585917-G-A
• gnomAD v4: 6-7585684-G-A
• MyVariant Identifiers: chr6:g.7585917G>A (hg19) ; chr6:g.7585684G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585684G>A , CM000668.2:g.7585684G>A	GRCh38
NC_000006.11:g.7585917G>A , CM000668.1:g.7585917G>A	GRCh37
NC_000006.10:g.7530916G>A	NCBI36
NG_008803.1:g.49048G>A , LRG_423:g.49048G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7093G>A	ENSP00000518230.1:p.Val2365Met
ENST00000379802.8:c.8422G>A MANE Select	ENSP00000369129.3:p.Val2808Met
ENST00000379802.7:c.8422G>A	ENSP00000369129.3:p.Val2808Met
ENST00000418664.2:c.6625G>A	ENSP00000396591.2:p.Val2209Met
NM_001008844.1:c.6625G>A	NP_001008844.1:p.Val2209Met
NM_004415.2:c.8422G>A , LRG_423t1:c.8422G>A	NP_004406.2:p.Val2808Met
XM_011514323.1:c.7093G>A	XP_011512625.1:p.Val2365Met
NM_001008844.2:c.6625G>A	NP_001008844.1:p.Val2209Met
NM_001319034.1:c.7093G>A	NP_001305963.1:p.Val2365Met
NM_004415.3:c.8422G>A	NP_004406.2:p.Val2808Met
NM_004415.4:c.8422G>A MANE Select	NP_004406.2:p.Val2808Met
NM_001008844.3:c.6625G>A	NP_001008844.1:p.Val2209Met
NM_001319034.2:c.7093G>A	NP_001305963.1:p.Val2365Met