Canonical Allele Identifier: CA3858697

Gene: CILK1

Linked Data

• dbSNP Id: rs770762510
• ExAC: 6:52880909 T / C
• gnomAD v2: 6-52880909-T-C
• gnomAD v3: 6-53016111-T-C
• gnomAD v4: 6-53016111-T-C
• MyVariant Identifiers: chr6:g.52880909T>C (hg19) ; chr6:g.53016111T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.53016111T>C , CM000668.2:g.53016111T>C	GRCh38
NC_000006.11:g.52880909T>C , CM000668.1:g.52880909T>C	GRCh37
NC_000006.10:g.52988868T>C	NCBI36
NG_012159.1:g.50692A>G
NG_012159.2:g.50692A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000350082.10:c.803A>G	ENSP00000263043.8:p.Asp268Gly
ENST00000676107.1:c.803A>G MANE Select	ENSP00000501692.1:p.Asp268Gly
ENST00000350082.9:c.803A>G	ENSP00000263043.7:p.Asp268Gly
ENST00000356971.3:c.803A>G	ENSP00000349458.3:p.Asp268Gly
NM_014920.3:c.803A>G	NP_055735.1:p.Asp268Gly
NM_016513.4:c.803A>G	NP_057597.2:p.Asp268Gly
XM_011514419.1:c.803A>G	XP_011512721.1:p.Asp268Gly
XM_011514420.1:c.803A>G	XP_011512722.1:p.Asp268Gly
XM_011514421.1:c.803A>G	XP_011512723.1:p.Asp268Gly
XM_011514420.2:c.803A>G	XP_011512722.1:p.Asp268Gly
XM_017010485.1:c.803A>G	XP_016865974.1:p.Asp268Gly
XM_017010486.1:c.803A>G	XP_016865975.1:p.Asp268Gly
XM_017010487.1:c.803A>G	XP_016865976.1:p.Asp268Gly
XM_017010488.1:c.803A>G	XP_016865977.1:p.Asp268Gly
XM_017010489.1:c.803A>G	XP_016865978.1:p.Asp268Gly
XM_017010490.1:c.803A>G	XP_016865979.1:p.Asp268Gly
XM_017010491.1:c.803A>G	XP_016865980.1:p.Asp268Gly
XM_017010492.1:c.803A>G	XP_016865981.1:p.Asp268Gly
NM_001375397.1:c.803A>G	NP_001362326.1:p.Asp268Gly
NM_001375398.1:c.803A>G	NP_001362327.1:p.Asp268Gly
NM_001375399.1:c.803A>G	NP_001362328.1:p.Asp268Gly
NM_001375400.1:c.803A>G	NP_001362329.1:p.Asp268Gly
NM_001375401.1:c.803A>G	NP_001362330.1:p.Asp268Gly
NM_001375402.1:c.803A>G	NP_001362331.1:p.Asp268Gly
NM_014920.5:c.803A>G MANE Select	NP_055735.1:p.Asp268Gly
NM_016513.5:c.803A>G	NP_057597.2:p.Asp268Gly
NR_164684.1:n.1204A>G