Canonical Allele Identifier: CA133976121

Gene: DSP

Linked Data

• ClinVar Variation Id: 918255
• ClinVar RCV Id: RCV001175752 ; RCV002068143
• dbSNP Id: rs573057380
• gnomAD v4: 6-7584816-C-A
• MyVariant Identifiers: chr6:g.7585049C>A (hg19) ; chr6:g.7584816C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584816C>A , CM000668.2:g.7584816C>A	GRCh38
NC_000006.11:g.7585049C>A , CM000668.1:g.7585049C>A	GRCh37
NC_000006.10:g.7530048C>A	NCBI36
NG_008803.1:g.48180C>A , LRG_423:g.48180C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6225C>A	ENSP00000518230.1:p.Val2075=
ENST00000379802.8:c.7554C>A MANE Select	ENSP00000369129.3:p.Val2518=
ENST00000379802.7:c.7554C>A	ENSP00000369129.3:p.Val2518=
ENST00000418664.2:c.5757C>A	ENSP00000396591.2:p.Val1919=
NM_001008844.1:c.5757C>A	NP_001008844.1:p.Val1919=
NM_004415.2:c.7554C>A , LRG_423t1:c.7554C>A	NP_004406.2:p.Val2518=
XM_011514323.1:c.6225C>A	XP_011512625.1:p.Val2075=
NM_001008844.2:c.5757C>A	NP_001008844.1:p.Val1919=
NM_001319034.1:c.6225C>A	NP_001305963.1:p.Val2075=
NM_004415.3:c.7554C>A	NP_004406.2:p.Val2518=
NM_004415.4:c.7554C>A MANE Select	NP_004406.2:p.Val2518=
NM_001008844.3:c.5757C>A	NP_001008844.1:p.Val1919=
NM_001319034.2:c.6225C>A	NP_001305963.1:p.Val2075=