Canonical Allele Identifier: CA6297318

Gene: DSCAML1

Linked Data

• ClinVar Variation Id: 402156
• ClinVar RCV Id: RCV000454190 ; RCV002526372
• dbSNP Id: rs759222737
• ExAC: 11:117389460 C / T
• gnomAD v2: 11-117389460-C-T
• gnomAD v3: 11-117518745-C-T
• gnomAD v4: 11-117518745-C-T
• COSMIC: COSM2104854
• MyVariant Identifiers: chr11:g.117389460C>T (hg19) ; chr11:g.117518745C>T (hg38)
• PubMed: PMID:26539891

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117518745C>T , CM000673.2:g.117518745C>T	GRCh38
NC_000011.9:g.117389460C>T , CM000673.1:g.117389460C>T	GRCh37
NC_000011.8:g.116894670C>T	NCBI36
NG_051656.1:g.283517G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651172.1:c.1411G>A	ENSP00000498407.1:p.Val471Ile
ENST00000651296.2:c.1231G>A MANE Select	ENSP00000498769.1:p.Val411Ile
ENST00000321322.6:c.1411G>A	ENSP00000315465.6:p.Val471Ile
ENST00000527706.5:c.601G>A	ENSP00000434335.1:p.Val201Ile
NM_020693.3:c.1411G>A	NP_065744.2:p.Val471Ile
XM_011542917.1:c.1267G>A	XP_011541219.1:p.Val423Ile
XM_011542918.1:c.1003G>A	XP_011541220.1:p.Val335Ile
XM_011542919.1:c.-51G>A	XP_011541221.1:n.-51G>A
XM_011542917.2:c.1267G>A	XP_011541219.1:p.Val423Ile
XM_011542919.2:c.-51G>A	XP_011541221.1:n.-51G>A
XM_011542920.2:c.-293G>A	XP_011541222.1:n.-293G>A
NM_001367904.1:c.1231G>A	NP_001354833.1:p.Val411Ile
NM_001367905.1:c.823G>A	NP_001354834.1:p.Val275Ile
NM_020693.4:c.1231G>A MANE Select	NP_065744.3:p.Val411Ile