Canonical Allele Identifier: CA050483

Gene: DSP

Linked Data

• ClinVar Variation Id: 859879
• ClinVar RCV Id: RCV001066084 ; RCV001180414 ; RCV002402457 ; RCV003442192
• dbSNP Id: rs139486943
• ExAC: 6:7585197 G / A
• gnomAD v2: 6-7585197-G-A
• gnomAD v3: 6-7584964-G-A
• gnomAD v4: 6-7584964-G-A
• COSMIC: COSM1445914
• MyVariant Identifiers: chr6:g.7585197G>A (hg19) ; chr6:g.7584964G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584964G>A , CM000668.2:g.7584964G>A	GRCh38
NC_000006.11:g.7585197G>A , CM000668.1:g.7585197G>A	GRCh37
NC_000006.10:g.7530196G>A	NCBI36
NG_008803.1:g.48328G>A , LRG_423:g.48328G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6373G>A	ENSP00000518230.1:p.Gly2125Ser
ENST00000379802.8:c.7702G>A MANE Select	ENSP00000369129.3:p.Gly2568Ser
ENST00000379802.7:c.7702G>A	ENSP00000369129.3:p.Gly2568Ser
ENST00000418664.2:c.5905G>A	ENSP00000396591.2:p.Gly1969Ser
NM_001008844.1:c.5905G>A	NP_001008844.1:p.Gly1969Ser
NM_004415.2:c.7702G>A , LRG_423t1:c.7702G>A	NP_004406.2:p.Gly2568Ser
XM_011514323.1:c.6373G>A	XP_011512625.1:p.Gly2125Ser
NM_001008844.2:c.5905G>A	NP_001008844.1:p.Gly1969Ser
NM_001319034.1:c.6373G>A	NP_001305963.1:p.Gly2125Ser
NM_004415.3:c.7702G>A	NP_004406.2:p.Gly2568Ser
NM_004415.4:c.7702G>A MANE Select	NP_004406.2:p.Gly2568Ser
NM_001008844.3:c.5905G>A	NP_001008844.1:p.Gly1969Ser
NM_001319034.2:c.6373G>A	NP_001305963.1:p.Gly2125Ser