Canonical Allele Identifier: CA448716004

Gene: DSP

Linked Data

• ClinVar Variation Id: 1579891
• ClinVar RCV Id: RCV002093468
• dbSNP Id: rs1759520376
• MyVariant Identifiers: chr6:g.7583717T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583484T>G , CM000668.2:g.7583484T>G	GRCh38
NC_000006.11:g.7583717T>G , CM000668.1:g.7583717T>G	GRCh37
NC_000006.10:g.7528716T>G	NCBI36
NG_008803.1:g.46848T>G , LRG_423:g.46848T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.4893T>G	ENSP00000518230.1:p.Ala1631=
ENST00000379802.8:c.6222T>G MANE Select	ENSP00000369129.3:p.Ala2074=
ENST00000379802.7:c.6222T>G	ENSP00000369129.3:p.Ala2074=
ENST00000418664.2:c.4425T>G	ENSP00000396591.2:p.Ala1475=
NM_001008844.1:c.4425T>G	NP_001008844.1:p.Ala1475=
NM_004415.2:c.6222T>G , LRG_423t1:c.6222T>G	NP_004406.2:p.Ala2074=
XM_011514323.1:c.4893T>G	XP_011512625.1:p.Ala1631=
NM_001008844.2:c.4425T>G	NP_001008844.1:p.Ala1475=
NM_001319034.1:c.4893T>G	NP_001305963.1:p.Ala1631=
NM_004415.3:c.6222T>G	NP_004406.2:p.Ala2074=
NM_004415.4:c.6222T>G MANE Select	NP_004406.2:p.Ala2074=
NM_001008844.3:c.4425T>G	NP_001008844.1:p.Ala1475=
NM_001319034.2:c.4893T>G	NP_001305963.1:p.Ala1631=