Canonical Allele Identifier: CA052220

Gene: DSP

Linked Data

• ClinVar Variation Id: 534290
• ClinVar RCV Id: RCV000641789 ; RCV001180337 ; RCV002449013 ; RCV002477412 ; RCV004003930
• dbSNP Id: rs760215987
• ExAC: 6:7585896 C / G
• gnomAD v2: 6-7585896-C-G
• gnomAD v3: 6-7585663-C-G
• gnomAD v4: 6-7585663-C-G
• MyVariant Identifiers: chr6:g.7585896C>G (hg19) ; chr6:g.7585663C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585663C>G , CM000668.2:g.7585663C>G	GRCh38
NC_000006.11:g.7585896C>G , CM000668.1:g.7585896C>G	GRCh37
NC_000006.10:g.7530895C>G	NCBI36
NG_008803.1:g.49027C>G , LRG_423:g.49027C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7072C>G	ENSP00000518230.1:p.Arg2358Gly
ENST00000379802.8:c.8401C>G MANE Select	ENSP00000369129.3:p.Arg2801Gly
ENST00000379802.7:c.8401C>G	ENSP00000369129.3:p.Arg2801Gly
ENST00000418664.2:c.6604C>G	ENSP00000396591.2:p.Arg2202Gly
NM_001008844.1:c.6604C>G	NP_001008844.1:p.Arg2202Gly
NM_004415.2:c.8401C>G , LRG_423t1:c.8401C>G	NP_004406.2:p.Arg2801Gly
XM_011514323.1:c.7072C>G	XP_011512625.1:p.Arg2358Gly
NM_001008844.2:c.6604C>G	NP_001008844.1:p.Arg2202Gly
NM_001319034.1:c.7072C>G	NP_001305963.1:p.Arg2358Gly
NM_004415.3:c.8401C>G	NP_004406.2:p.Arg2801Gly
NM_004415.4:c.8401C>G MANE Select	NP_004406.2:p.Arg2801Gly
NM_001008844.3:c.6604C>G	NP_001008844.1:p.Arg2202Gly
NM_001319034.2:c.7072C>G	NP_001305963.1:p.Arg2358Gly