Canonical Allele Identifier: CA046870

Gene: DSP

Linked Data

• ClinVar Variation Id: 2256966
• ClinVar RCV Id: RCV002777851 ; RCV003487049
• dbSNP Id: rs756585001
• ExAC: 6:7583587 T / C
• gnomAD v2: 6-7583587-T-C
• gnomAD v4: 6-7583354-T-C
• MyVariant Identifiers: chr6:g.7583587T>C (hg19) ; chr6:g.7583354T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583354T>C , CM000668.2:g.7583354T>C	GRCh38
NC_000006.11:g.7583587T>C , CM000668.1:g.7583587T>C	GRCh37
NC_000006.10:g.7528586T>C	NCBI36
NG_008803.1:g.46718T>C , LRG_423:g.46718T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.4763T>C	ENSP00000518230.1:p.Leu1588Ser
ENST00000379802.8:c.6092T>C MANE Select	ENSP00000369129.3:p.Leu2031Ser
ENST00000379802.7:c.6092T>C	ENSP00000369129.3:p.Leu2031Ser
ENST00000418664.2:c.4295T>C	ENSP00000396591.2:p.Leu1432Ser
NM_001008844.1:c.4295T>C	NP_001008844.1:p.Leu1432Ser
NM_004415.2:c.6092T>C , LRG_423t1:c.6092T>C	NP_004406.2:p.Leu2031Ser
XM_011514323.1:c.4763T>C	XP_011512625.1:p.Leu1588Ser
NM_001008844.2:c.4295T>C	NP_001008844.1:p.Leu1432Ser
NM_001319034.1:c.4763T>C	NP_001305963.1:p.Leu1588Ser
NM_004415.3:c.6092T>C	NP_004406.2:p.Leu2031Ser
NM_004415.4:c.6092T>C MANE Select	NP_004406.2:p.Leu2031Ser
NM_001008844.3:c.4295T>C	NP_001008844.1:p.Leu1432Ser
NM_001319034.2:c.4763T>C	NP_001305963.1:p.Leu1588Ser