Canonical Allele Identifier: CA536655

Gene: SKI

Linked Data

• ClinVar Variation Id: 423663
• ClinVar RCV Id: RCV000486959 ; RCV000537023 ; RCV004023198
• dbSNP Id: rs764317955
• ExAC: 1:2235338 C / T
• gnomAD v2: 1-2235338-C-T
• gnomAD v3: 1-2303899-C-T
• gnomAD v4: 1-2303899-C-T
• MyVariant Identifiers: chr1:g.2235338C>T (hg19) ; chr1:g.2303899C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303899C>T , CM000663.2:g.2303899C>T	GRCh38
NC_000001.10:g.2235338C>T , CM000663.1:g.2235338C>T	GRCh37
NC_000001.9:g.2225198C>T	NCBI36
NG_013084.1:g.80205C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.439C>T
ENST00000378536.5:c.1271C>T MANE Select	ENSP00000367797.4:p.Pro424Leu
ENST00000378536.4:c.1271C>T	ENSP00000367797.4:p.Pro424Leu
ENST00000507179.1:n.254C>T
NM_003036.3:c.1271C>T	NP_003027.1:p.Pro424Leu
XM_005244775.2:c.1271C>T	XP_005244832.1:p.Pro424Leu
XM_005244776.3:c.401C>T	XP_005244833.1:p.Pro134Leu
XM_005244775.3:c.1271C>T	XP_005244832.1:p.Pro424Leu
XM_005244776.4:c.401C>T	XP_005244833.1:p.Pro134Leu
XM_017002128.1:c.779C>T	XP_016857617.1:p.Pro260Leu
NM_003036.4:c.1271C>T MANE Select	NP_003027.1:p.Pro424Leu