Canonical Allele Identifier: CA448716336

Gene: DSP

Linked Data

• ClinVar Variation Id: 2191591
• ClinVar RCV Id: RCV002620677
• MyVariant Identifiers: chr6:g.7585220T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584987T>C , CM000668.2:g.7584987T>C	GRCh38
NC_000006.11:g.7585220T>C , CM000668.1:g.7585220T>C	GRCh37
NC_000006.10:g.7530219T>C	NCBI36
NG_008803.1:g.48351T>C , LRG_423:g.48351T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6396T>C	ENSP00000518230.1:p.Ser2132=
ENST00000379802.8:c.7725T>C MANE Select	ENSP00000369129.3:p.Ser2575=
ENST00000379802.7:c.7725T>C	ENSP00000369129.3:p.Ser2575=
ENST00000418664.2:c.5928T>C	ENSP00000396591.2:p.Ser1976=
NM_001008844.1:c.5928T>C	NP_001008844.1:p.Ser1976=
NM_004415.2:c.7725T>C , LRG_423t1:c.7725T>C	NP_004406.2:p.Ser2575=
XM_011514323.1:c.6396T>C	XP_011512625.1:p.Ser2132=
NM_001008844.2:c.5928T>C	NP_001008844.1:p.Ser1976=
NM_001319034.1:c.6396T>C	NP_001305963.1:p.Ser2132=
NM_004415.3:c.7725T>C	NP_004406.2:p.Ser2575=
NM_004415.4:c.7725T>C MANE Select	NP_004406.2:p.Ser2575=
NM_001008844.3:c.5928T>C	NP_001008844.1:p.Ser1976=
NM_001319034.2:c.6396T>C	NP_001305963.1:p.Ser2132=