Canonical Allele Identifier: CA051049

Gene: DSP

Linked Data

• ClinVar Variation Id: 628367
• ClinVar RCV Id: RCV000772824 ; RCV003166041 ; RCV001850968
• dbSNP Id: rs144821643
• ExAC: 6:7585371 G / C
• gnomAD v2: 6-7585371-G-C
• gnomAD v3: 6-7585138-G-C
• gnomAD v4: 6-7585138-G-C
• MyVariant Identifiers: chr6:g.7585371G>C (hg19) ; chr6:g.7585138G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585138G>C , CM000668.2:g.7585138G>C	GRCh38
NC_000006.11:g.7585371G>C , CM000668.1:g.7585371G>C	GRCh37
NC_000006.10:g.7530370G>C	NCBI36
NG_008803.1:g.48502G>C , LRG_423:g.48502G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6547G>C	ENSP00000518230.1:p.Glu2183Gln
ENST00000379802.8:c.7876G>C MANE Select	ENSP00000369129.3:p.Glu2626Gln
ENST00000379802.7:c.7876G>C	ENSP00000369129.3:p.Glu2626Gln
ENST00000418664.2:c.6079G>C	ENSP00000396591.2:p.Glu2027Gln
NM_001008844.1:c.6079G>C	NP_001008844.1:p.Glu2027Gln
NM_004415.2:c.7876G>C , LRG_423t1:c.7876G>C	NP_004406.2:p.Glu2626Gln
XM_011514323.1:c.6547G>C	XP_011512625.1:p.Glu2183Gln
NM_001008844.2:c.6079G>C	NP_001008844.1:p.Glu2027Gln
NM_001319034.1:c.6547G>C	NP_001305963.1:p.Glu2183Gln
NM_004415.3:c.7876G>C	NP_004406.2:p.Glu2626Gln
NM_004415.4:c.7876G>C MANE Select	NP_004406.2:p.Glu2626Gln
NM_001008844.3:c.6079G>C	NP_001008844.1:p.Glu2027Gln
NM_001319034.2:c.6547G>C	NP_001305963.1:p.Glu2183Gln