Canonical Allele Identifier: CA006573

Gene: DSP

Linked Data

• ClinVar Variation Id: 199843
• ClinVar RCV Id: RCV000181263 ; RCV000554349
• dbSNP Id: rs794728103
• gnomAD v2: 6-7583202-C-A
• gnomAD v3: 6-7582969-C-A
• gnomAD v4: 6-7582969-C-A
• MyVariant Identifiers: chr6:g.7583202C>A (hg19) ; chr6:g.7582969C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7582969C>A , CM000668.2:g.7582969C>A	GRCh38
NC_000006.11:g.7583202C>A , CM000668.1:g.7583202C>A	GRCh37
NC_000006.10:g.7528201C>A	NCBI36
NG_008803.1:g.46333C>A , LRG_423:g.46333C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4378C>A	ENSP00000518230.1:p.Gln1460Lys
ENST00000379802.8:c.5707C>A MANE Select	ENSP00000369129.3:p.Gln1903Lys
ENST00000379802.7:c.5707C>A	ENSP00000369129.3:p.Gln1903Lys
ENST00000418664.2:c.3910C>A	ENSP00000396591.2:p.Gln1304Lys
NM_001008844.1:c.3910C>A	NP_001008844.1:p.Gln1304Lys
NM_004415.2:c.5707C>A , LRG_423t1:c.5707C>A	NP_004406.2:p.Gln1903Lys
XM_011514323.1:c.4378C>A	XP_011512625.1:p.Gln1460Lys
NM_001008844.2:c.3910C>A	NP_001008844.1:p.Gln1304Lys
NM_001319034.1:c.4378C>A	NP_001305963.1:p.Gln1460Lys
NM_004415.3:c.5707C>A	NP_004406.2:p.Gln1903Lys
NM_004415.4:c.5707C>A MANE Select	NP_004406.2:p.Gln1903Lys
NM_001008844.3:c.3910C>A	NP_001008844.1:p.Gln1304Lys
NM_001319034.2:c.4378C>A	NP_001305963.1:p.Gln1460Lys