Canonical Allele Identifier: CA049007

Gene: DSP

Linked Data

• ClinVar Variation Id: 572888
• ClinVar RCV Id: RCV000694395 ; RCV001258161 ; RCV003999614
• dbSNP Id: rs768837509
• ExAC: 6:7584534 A / C
• gnomAD v2: 6-7584534-A-C
• gnomAD v4: 6-7584301-A-C
• MyVariant Identifiers: chr6:g.7584534A>C (hg19) ; chr6:g.7584301A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584301A>C , CM000668.2:g.7584301A>C	GRCh38
NC_000006.11:g.7584534A>C , CM000668.1:g.7584534A>C	GRCh37
NC_000006.10:g.7529533A>C	NCBI36
NG_008803.1:g.47665A>C , LRG_423:g.47665A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.5710A>C	ENSP00000518230.1:p.Ile1904Leu
ENST00000379802.8:c.7039A>C MANE Select	ENSP00000369129.3:p.Ile2347Leu
ENST00000379802.7:c.7039A>C	ENSP00000369129.3:p.Ile2347Leu
ENST00000418664.2:c.5242A>C	ENSP00000396591.2:p.Ile1748Leu
NM_001008844.1:c.5242A>C	NP_001008844.1:p.Ile1748Leu
NM_004415.2:c.7039A>C , LRG_423t1:c.7039A>C	NP_004406.2:p.Ile2347Leu
XM_011514323.1:c.5710A>C	XP_011512625.1:p.Ile1904Leu
NM_001008844.2:c.5242A>C	NP_001008844.1:p.Ile1748Leu
NM_001319034.1:c.5710A>C	NP_001305963.1:p.Ile1904Leu
NM_004415.3:c.7039A>C	NP_004406.2:p.Ile2347Leu
NM_004415.4:c.7039A>C MANE Select	NP_004406.2:p.Ile2347Leu
NM_001008844.3:c.5242A>C	NP_001008844.1:p.Ile1748Leu
NM_001319034.2:c.5710A>C	NP_001305963.1:p.Ile1904Leu