Canonical Allele Identifier: CA362689709

Gene: DSP

Linked Data

• ClinVar Variation Id: 1041014
• ClinVar RCV Id: RCV001344757 ; RCV003532960 ; RCV004005195
• dbSNP Id: rs1759505693
• gnomAD v4: 6-7583186-T-C
• MyVariant Identifiers: chr6:g.7583419T>C (hg19) ; chr6:g.7583186T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583186T>C , CM000668.2:g.7583186T>C	GRCh38
NC_000006.11:g.7583419T>C , CM000668.1:g.7583419T>C	GRCh37
NC_000006.10:g.7528418T>C	NCBI36
NG_008803.1:g.46550T>C , LRG_423:g.46550T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4595T>C	ENSP00000518230.1:p.Val1532Ala
ENST00000379802.8:c.5924T>C MANE Select	ENSP00000369129.3:p.Val1975Ala
ENST00000379802.7:c.5924T>C	ENSP00000369129.3:p.Val1975Ala
ENST00000418664.2:c.4127T>C	ENSP00000396591.2:p.Val1376Ala
NM_001008844.1:c.4127T>C	NP_001008844.1:p.Val1376Ala
NM_004415.2:c.5924T>C , LRG_423t1:c.5924T>C	NP_004406.2:p.Val1975Ala
XM_011514323.1:c.4595T>C	XP_011512625.1:p.Val1532Ala
NM_001008844.2:c.4127T>C	NP_001008844.1:p.Val1376Ala
NM_001319034.1:c.4595T>C	NP_001305963.1:p.Val1532Ala
NM_004415.3:c.5924T>C	NP_004406.2:p.Val1975Ala
NM_004415.4:c.5924T>C MANE Select	NP_004406.2:p.Val1975Ala
NM_001008844.3:c.4127T>C	NP_001008844.1:p.Val1376Ala
NM_001319034.2:c.4595T>C	NP_001305963.1:p.Val1532Ala