Canonical Allele Identifier: CA1836707

Gene: CKAP2L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756185T>C , CM000664.2:g.112756185T>C	GRCh38
NC_000002.11:g.113513762T>C , CM000664.1:g.113513762T>C	GRCh37
NC_000002.10:g.113230233T>C	NCBI36
NG_041820.1:g.13493A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_152515.5:c.1186A>G MANE Select	NP_689728.3:p.Ile396Val
ENST00000302450.11:c.1186A>G MANE Select	ENSP00000305204.6:p.Ile396Val
NM_001304361.1:c.691A>G	NP_001291290.1:p.Ile231Val
NM_001304361.2:c.691A>G	NP_001291290.1:p.Ile231Val
NM_152515.4:c.1186A>G	NP_689728.3:p.Ile396Val
NR_130712.1:n.558-51A>G
NR_130712.2:n.490-51A>G
ENST00000302450.10:c.1186A>G	ENSP00000305204.6:p.Ile396Val
ENST00000435431.5:c.479-51A>G	ENSP00000414834.1:n.479-51A>G
XM_011510666.1:c.691A>G	XP_011508968.1:p.Ile231Val
XM_011510666.2:c.691A>G	XP_011508968.1:p.Ile231Val