Canonical Allele Identifier: CA448716008

Gene: DSP

Linked Data

• ClinVar Variation Id: 2775339
• ClinVar RCV Id: RCV003533750
• MyVariant Identifiers: chr6:g.7583720G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583487G>A , CM000668.2:g.7583487G>A	GRCh38
NC_000006.11:g.7583720G>A , CM000668.1:g.7583720G>A	GRCh37
NC_000006.10:g.7528719G>A	NCBI36
NG_008803.1:g.46851G>A , LRG_423:g.46851G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.4896G>A	ENSP00000518230.1:p.Arg1632=
ENST00000379802.8:c.6225G>A MANE Select	ENSP00000369129.3:p.Arg2075=
ENST00000379802.7:c.6225G>A	ENSP00000369129.3:p.Arg2075=
ENST00000418664.2:c.4428G>A	ENSP00000396591.2:p.Arg1476=
NM_001008844.1:c.4428G>A	NP_001008844.1:p.Arg1476=
NM_004415.2:c.6225G>A , LRG_423t1:c.6225G>A	NP_004406.2:p.Arg2075=
XM_011514323.1:c.4896G>A	XP_011512625.1:p.Arg1632=
NM_001008844.2:c.4428G>A	NP_001008844.1:p.Arg1476=
NM_001319034.1:c.4896G>A	NP_001305963.1:p.Arg1632=
NM_004415.3:c.6225G>A	NP_004406.2:p.Arg2075=
NM_004415.4:c.6225G>A MANE Select	NP_004406.2:p.Arg2075=
NM_001008844.3:c.4428G>A	NP_001008844.1:p.Arg1476=
NM_001319034.2:c.4896G>A	NP_001305963.1:p.Arg1632=