Canonical Allele Identifier: CA133968478

Gene: DSP

Linked Data

• ClinVar Variation Id: 2931057
• ClinVar RCV Id: RCV003782319
• dbSNP Id: rs139582608
• gnomAD v4: 6-7579698-G-A
• COSMIC: COSM108819
• MyVariant Identifiers: chr6:g.7579931G>A (hg19) ; chr6:g.7579698G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579698G>A , CM000668.2:g.7579698G>A	GRCh38
NC_000006.11:g.7579931G>A , CM000668.1:g.7579931G>A	GRCh37
NC_000006.10:g.7524930G>A	NCBI36
NG_008803.1:g.43062G>A , LRG_423:g.43062G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3508G>A	ENSP00000518230.1:p.Glu1170Lys
ENST00000379802.8:c.3508G>A MANE Select	ENSP00000369129.3:p.Glu1170Lys
ENST00000379802.7:c.3508G>A	ENSP00000369129.3:p.Glu1170Lys
ENST00000418664.2:c.3508G>A	ENSP00000396591.2:p.Glu1170Lys
NM_001008844.1:c.3508G>A	NP_001008844.1:p.Glu1170Lys
NM_004415.2:c.3508G>A , LRG_423t1:c.3508G>A	NP_004406.2:p.Glu1170Lys
XM_011514323.1:c.3508G>A	XP_011512625.1:p.Glu1170Lys
NM_001008844.2:c.3508G>A	NP_001008844.1:p.Glu1170Lys
NM_001319034.1:c.3508G>A	NP_001305963.1:p.Glu1170Lys
NM_004415.3:c.3508G>A	NP_004406.2:p.Glu1170Lys
NM_004415.4:c.3508G>A MANE Select	NP_004406.2:p.Glu1170Lys
NM_001008844.3:c.3508G>A	NP_001008844.1:p.Glu1170Lys
NM_001319034.2:c.3508G>A	NP_001305963.1:p.Glu1170Lys