Canonical Allele Identifier: CA362694103

Gene: DSP

Linked Data

• ClinVar Variation Id: 1761306
• ClinVar RCV Id: RCV002416810
• dbSNP Id: rs1759608137
• gnomAD v3: 6-7585201-G-A
• gnomAD v4: 6-7585201-G-A
• COSMIC: COSM5585065
• MyVariant Identifiers: chr6:g.7585434G>A (hg19) ; chr6:g.7585201G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585201G>A , CM000668.2:g.7585201G>A	GRCh38
NC_000006.11:g.7585434G>A , CM000668.1:g.7585434G>A	GRCh37
NC_000006.10:g.7530433G>A	NCBI36
NG_008803.1:g.48565G>A , LRG_423:g.48565G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6610G>A	ENSP00000518230.1:p.Gly2204Ser
ENST00000379802.8:c.7939G>A MANE Select	ENSP00000369129.3:p.Gly2647Ser
ENST00000379802.7:c.7939G>A	ENSP00000369129.3:p.Gly2647Ser
ENST00000418664.2:c.6142G>A	ENSP00000396591.2:p.Gly2048Ser
NM_001008844.1:c.6142G>A	NP_001008844.1:p.Gly2048Ser
NM_004415.2:c.7939G>A , LRG_423t1:c.7939G>A	NP_004406.2:p.Gly2647Ser
XM_011514323.1:c.6610G>A	XP_011512625.1:p.Gly2204Ser
NM_001008844.2:c.6142G>A	NP_001008844.1:p.Gly2048Ser
NM_001319034.1:c.6610G>A	NP_001305963.1:p.Gly2204Ser
NM_004415.3:c.7939G>A	NP_004406.2:p.Gly2647Ser
NM_004415.4:c.7939G>A MANE Select	NP_004406.2:p.Gly2647Ser
NM_001008844.3:c.6142G>A	NP_001008844.1:p.Gly2048Ser
NM_001319034.2:c.6610G>A	NP_001305963.1:p.Gly2204Ser