Canonical Allele Identifier: CA362689175

Gene: DSP

Linked Data

• ClinVar Variation Id: 2071274
• ClinVar RCV Id: RCV002949267
• MyVariant Identifiers: chr6:g.7583176G>C (hg19) ; chr6:g.7582943G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7582943G>C , CM000668.2:g.7582943G>C	GRCh38
NC_000006.11:g.7583176G>C , CM000668.1:g.7583176G>C	GRCh37
NC_000006.10:g.7528175G>C	NCBI36
NG_008803.1:g.46307G>C , LRG_423:g.46307G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4352G>C	ENSP00000518230.1:p.Ser1451Thr
ENST00000379802.8:c.5681G>C MANE Select	ENSP00000369129.3:p.Ser1894Thr
ENST00000379802.7:c.5681G>C	ENSP00000369129.3:p.Ser1894Thr
ENST00000418664.2:c.3884G>C	ENSP00000396591.2:p.Ser1295Thr
NM_001008844.1:c.3884G>C	NP_001008844.1:p.Ser1295Thr
NM_004415.2:c.5681G>C , LRG_423t1:c.5681G>C	NP_004406.2:p.Ser1894Thr
XM_011514323.1:c.4352G>C	XP_011512625.1:p.Ser1451Thr
NM_001008844.2:c.3884G>C	NP_001008844.1:p.Ser1295Thr
NM_001319034.1:c.4352G>C	NP_001305963.1:p.Ser1451Thr
NM_004415.3:c.5681G>C	NP_004406.2:p.Ser1894Thr
NM_004415.4:c.5681G>C MANE Select	NP_004406.2:p.Ser1894Thr
NM_001008844.3:c.3884G>C	NP_001008844.1:p.Ser1295Thr
NM_001319034.2:c.4352G>C	NP_001305963.1:p.Ser1451Thr