Canonical Allele Identifier: CA364470364

Gene: CILK1

Linked Data

• ClinVar Variation Id: 2065781
• ClinVar RCV Id: RCV002958730
• gnomAD v4: 6-53016163-G-A
• MyVariant Identifiers: chr6:g.52880961G>A (hg19) ; chr6:g.53016163G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.53016163G>A , CM000668.2:g.53016163G>A	GRCh38
NC_000006.11:g.52880961G>A , CM000668.1:g.52880961G>A	GRCh37
NC_000006.10:g.52988920G>A	NCBI36
NG_012159.1:g.50640C>T
NG_012159.2:g.50640C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350082.10:c.751C>T	ENSP00000263043.8:p.Pro251Ser
ENST00000676107.1:c.751C>T MANE Select	ENSP00000501692.1:p.Pro251Ser
ENST00000350082.9:c.751C>T	ENSP00000263043.7:p.Pro251Ser
ENST00000356971.3:c.751C>T	ENSP00000349458.3:p.Pro251Ser
NM_014920.3:c.751C>T	NP_055735.1:p.Pro251Ser
NM_016513.4:c.751C>T	NP_057597.2:p.Pro251Ser
XM_011514419.1:c.751C>T	XP_011512721.1:p.Pro251Ser
XM_011514420.1:c.751C>T	XP_011512722.1:p.Pro251Ser
XM_011514421.1:c.751C>T	XP_011512723.1:p.Pro251Ser
XM_011514420.2:c.751C>T	XP_011512722.1:p.Pro251Ser
XM_017010485.1:c.751C>T	XP_016865974.1:p.Pro251Ser
XM_017010486.1:c.751C>T	XP_016865975.1:p.Pro251Ser
XM_017010487.1:c.751C>T	XP_016865976.1:p.Pro251Ser
XM_017010488.1:c.751C>T	XP_016865977.1:p.Pro251Ser
XM_017010489.1:c.751C>T	XP_016865978.1:p.Pro251Ser
XM_017010490.1:c.751C>T	XP_016865979.1:p.Pro251Ser
XM_017010491.1:c.751C>T	XP_016865980.1:p.Pro251Ser
XM_017010492.1:c.751C>T	XP_016865981.1:p.Pro251Ser
NM_001375397.1:c.751C>T	NP_001362326.1:p.Pro251Ser
NM_001375398.1:c.751C>T	NP_001362327.1:p.Pro251Ser
NM_001375399.1:c.751C>T	NP_001362328.1:p.Pro251Ser
NM_001375400.1:c.751C>T	NP_001362329.1:p.Pro251Ser
NM_001375401.1:c.751C>T	NP_001362330.1:p.Pro251Ser
NM_001375402.1:c.751C>T	NP_001362331.1:p.Pro251Ser
NM_014920.5:c.751C>T MANE Select	NP_055735.1:p.Pro251Ser
NM_016513.5:c.751C>T	NP_057597.2:p.Pro251Ser
NR_164684.1:n.1152C>T