Canonical Allele Identifier: CA362684759

Gene: DSP

Linked Data

• ClinVar Variation Id: 1315470
• ClinVar RCV Id: RCV001774720 ; RCV003772057 ; RCV003289088
• dbSNP Id: rs1276847644
• gnomAD v2: 6-7580166-A-C
• gnomAD v4: 6-7579933-A-C
• MyVariant Identifiers: chr6:g.7580166A>C (hg19) ; chr6:g.7579933A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579933A>C , CM000668.2:g.7579933A>C	GRCh38
NC_000006.11:g.7580166A>C , CM000668.1:g.7580166A>C	GRCh37
NC_000006.10:g.7525165A>C	NCBI36
NG_008803.1:g.43297A>C , LRG_423:g.43297A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3743A>C	ENSP00000518230.1:p.Asp1248Ala
ENST00000379802.8:c.3743A>C MANE Select	ENSP00000369129.3:p.Asp1248Ala
ENST00000379802.7:c.3743A>C	ENSP00000369129.3:p.Asp1248Ala
ENST00000418664.2:c.3582+161A>C	ENSP00000396591.2:n.3582+161A>C
NM_001008844.1:c.3582+161A>C	NP_001008844.1:n.3582+161A>C
NM_004415.2:c.3743A>C , LRG_423t1:c.3743A>C	NP_004406.2:p.Asp1248Ala
XM_011514323.1:c.3743A>C	XP_011512625.1:p.Asp1248Ala
NM_001008844.2:c.3582+161A>C	NP_001008844.1:n.3582+161A>C
NM_001319034.1:c.3743A>C	NP_001305963.1:p.Asp1248Ala
NM_004415.3:c.3743A>C	NP_004406.2:p.Asp1248Ala
NM_004415.4:c.3743A>C MANE Select	NP_004406.2:p.Asp1248Ala
NM_001008844.3:c.3582+161A>C	NP_001008844.1:n.3582+161A>C
NM_001319034.2:c.3743A>C	NP_001305963.1:p.Asp1248Ala