Canonical Allele Identifier: CA362695227

Gene: DSP

Linked Data

• ClinVar Variation Id: 1388205
• ClinVar RCV Id: RCV001884442
• dbSNP Id: rs139969658
• gnomAD v2: 6-7585971-C-G
• gnomAD v4: 6-7585738-C-G
• MyVariant Identifiers: chr6:g.7585971C>G (hg19) ; chr6:g.7585738C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585738C>G , CM000668.2:g.7585738C>G	GRCh38
NC_000006.11:g.7585971C>G , CM000668.1:g.7585971C>G	GRCh37
NC_000006.10:g.7530970C>G	NCBI36
NG_008803.1:g.49102C>G , LRG_423:g.49102C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.7147C>G	ENSP00000518230.1:p.Arg2383Gly
ENST00000379802.8:c.8476C>G MANE Select	ENSP00000369129.3:p.Arg2826Gly
ENST00000379802.7:c.8476C>G	ENSP00000369129.3:p.Arg2826Gly
ENST00000418664.2:c.6679C>G	ENSP00000396591.2:p.Arg2227Gly
NM_001008844.1:c.6679C>G	NP_001008844.1:p.Arg2227Gly
NM_004415.2:c.8476C>G , LRG_423t1:c.8476C>G	NP_004406.2:p.Arg2826Gly
XM_011514323.1:c.7147C>G	XP_011512625.1:p.Arg2383Gly
NM_001008844.2:c.6679C>G	NP_001008844.1:p.Arg2227Gly
NM_001319034.1:c.7147C>G	NP_001305963.1:p.Arg2383Gly
NM_004415.3:c.8476C>G	NP_004406.2:p.Arg2826Gly
NM_004415.4:c.8476C>G MANE Select	NP_004406.2:p.Arg2826Gly
NM_001008844.3:c.6679C>G	NP_001008844.1:p.Arg2227Gly
NM_001319034.2:c.7147C>G	NP_001305963.1:p.Arg2383Gly