Canonical Allele Identifier: CA051243

Gene: DSP

Linked Data

• ClinVar Variation Id: 2025955
• ClinVar RCV Id: RCV002858247
• dbSNP Id: rs775658001
• ExAC: 6:7585458 G / T
• gnomAD v2: 6-7585458-G-T
• gnomAD v4: 6-7585225-G-T
• MyVariant Identifiers: chr6:g.7585458G>T (hg19) ; chr6:g.7585225G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585225G>T , CM000668.2:g.7585225G>T	GRCh38
NC_000006.11:g.7585458G>T , CM000668.1:g.7585458G>T	GRCh37
NC_000006.10:g.7530457G>T	NCBI36
NG_008803.1:g.48589G>T , LRG_423:g.48589G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6634G>T	ENSP00000518230.1:p.Ala2212Ser
ENST00000379802.8:c.7963G>T MANE Select	ENSP00000369129.3:p.Ala2655Ser
ENST00000379802.7:c.7963G>T	ENSP00000369129.3:p.Ala2655Ser
ENST00000418664.2:c.6166G>T	ENSP00000396591.2:p.Ala2056Ser
NM_001008844.1:c.6166G>T	NP_001008844.1:p.Ala2056Ser
NM_004415.2:c.7963G>T , LRG_423t1:c.7963G>T	NP_004406.2:p.Ala2655Ser
XM_011514323.1:c.6634G>T	XP_011512625.1:p.Ala2212Ser
NM_001008844.2:c.6166G>T	NP_001008844.1:p.Ala2056Ser
NM_001319034.1:c.6634G>T	NP_001305963.1:p.Ala2212Ser
NM_004415.3:c.7963G>T	NP_004406.2:p.Ala2655Ser
NM_004415.4:c.7963G>T MANE Select	NP_004406.2:p.Ala2655Ser
NM_001008844.3:c.6166G>T	NP_001008844.1:p.Ala2056Ser
NM_001319034.2:c.6634G>T	NP_001305963.1:p.Ala2212Ser