Canonical Allele Identifier: CA536350

Gene: SKI

Linked Data

• ClinVar Variation Id: 520167
• ClinVar RCV Id: RCV002315210 ; RCV002532812 ; RCV002466546
• dbSNP Id: rs753070477
• ExAC: 1:2160432 T / C
• gnomAD v2: 1-2160432-T-C
• gnomAD v3: 1-2228993-T-C
• gnomAD v4: 1-2228993-T-C
• MyVariant Identifiers: chr1:g.2160432T>C (hg19) ; chr1:g.2228993T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2228993T>C , CM000663.2:g.2228993T>C	GRCh38
NC_000001.10:g.2160432T>C , CM000663.1:g.2160432T>C	GRCh37
NC_000001.9:g.2150292T>C	NCBI36
NG_013084.1:g.5299T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.137+1469T>C
ENST00000378536.5:c.227T>C MANE Select	ENSP00000367797.4:p.Leu76Pro
ENST00000378536.4:c.227T>C	ENSP00000367797.4:p.Leu76Pro
NM_003036.3:c.227T>C	NP_003027.1:p.Leu76Pro
XM_005244775.2:c.227T>C	XP_005244832.1:p.Leu76Pro
XM_005244775.3:c.227T>C	XP_005244832.1:p.Leu76Pro
NM_003036.4:c.227T>C MANE Select	NP_003027.1:p.Leu76Pro