Canonical Allele Identifier: CA362690088

Gene: DSP

Linked Data

• ClinVar Variation Id: 1491288
• ClinVar RCV Id: RCV001986419 ; RCV004011082
• dbSNP Id: rs2113699558
• gnomAD v4: 6-7583368-A-G
• MyVariant Identifiers: chr6:g.7583601A>G (hg19) ; chr6:g.7583368A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583368A>G , CM000668.2:g.7583368A>G	GRCh38
NC_000006.11:g.7583601A>G , CM000668.1:g.7583601A>G	GRCh37
NC_000006.10:g.7528600A>G	NCBI36
NG_008803.1:g.46732A>G , LRG_423:g.46732A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4777A>G	ENSP00000518230.1:p.Arg1593Gly
ENST00000379802.8:c.6106A>G MANE Select	ENSP00000369129.3:p.Arg2036Gly
ENST00000379802.7:c.6106A>G	ENSP00000369129.3:p.Arg2036Gly
ENST00000418664.2:c.4309A>G	ENSP00000396591.2:p.Arg1437Gly
NM_001008844.1:c.4309A>G	NP_001008844.1:p.Arg1437Gly
NM_004415.2:c.6106A>G , LRG_423t1:c.6106A>G	NP_004406.2:p.Arg2036Gly
XM_011514323.1:c.4777A>G	XP_011512625.1:p.Arg1593Gly
NM_001008844.2:c.4309A>G	NP_001008844.1:p.Arg1437Gly
NM_001319034.1:c.4777A>G	NP_001305963.1:p.Arg1593Gly
NM_004415.3:c.6106A>G	NP_004406.2:p.Arg2036Gly
NM_004415.4:c.6106A>G MANE Select	NP_004406.2:p.Arg2036Gly
NM_001008844.3:c.4309A>G	NP_001008844.1:p.Arg1437Gly
NM_001319034.2:c.4777A>G	NP_001305963.1:p.Arg1593Gly