Canonical Allele Identifier: CA324427

Gene: SKI

Linked Data

• ClinVar Variation Id: 213697
• ClinVar RCV Id: RCV000199881 ; RCV000548962 ; RCV002315617
• dbSNP Id: rs764786977
• ExAC: 1:2235876 C / T
• gnomAD v2: 1-2235876-C-T
• gnomAD v3: 1-2304437-C-T
• gnomAD v4: 1-2304437-C-T
• COSMIC: COSM1225819
• MyVariant Identifiers: chr1:g.2235876C>T (hg19) ; chr1:g.2304437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2304437C>T , CM000663.2:g.2304437C>T	GRCh38
NC_000001.10:g.2235876C>T , CM000663.1:g.2235876C>T	GRCh37
NC_000001.9:g.2225736C>T	NCBI36
NG_013084.1:g.80743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378536.5:c.1619C>T MANE Select	ENSP00000367797.4:p.Ala540Val
ENST00000378536.4:c.1619C>T	ENSP00000367797.4:p.Ala540Val
NM_003036.3:c.1619C>T	NP_003027.1:p.Ala540Val
XM_005244775.2:c.1625C>T	XP_005244832.1:p.Ala542Val
XM_005244776.3:c.755C>T	XP_005244833.1:p.Ala252Val
XM_005244775.3:c.1625C>T	XP_005244832.1:p.Ala542Val
XM_005244776.4:c.755C>T	XP_005244833.1:p.Ala252Val
XM_017002128.1:c.1133C>T	XP_016857617.1:p.Ala378Val
NM_003036.4:c.1619C>T MANE Select	NP_003027.1:p.Ala540Val