Canonical Allele Identifier: CA348297966
Gene: CKAP2L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112756817T>A , CM000664.2:g.112756817T>A GRCh38
NC_000002.11:g.113514394T>A , CM000664.1:g.113514394T>A GRCh37
NC_000002.10:g.113230865T>A NCBI36
NG_041820.1:g.12861A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302450.11:c.554A>T MANE Select ENSP00000305204.6:p.Lys185Ile
ENST00000302450.10:c.554A>T ENSP00000305204.6:p.Lys185Ile
ENST00000435431.5:c.478+76A>T ENSP00000414834.1:n.478+76A>T
ENST00000481732.5:n.515A>T
NM_001304361.1:c.59A>T NP_001291290.1:p.Lys20Ile
NM_152515.4:c.554A>T NP_689728.3:p.Lys185Ile
NR_130712.1:n.557+76A>T
XM_011510666.1:c.59A>T XP_011508968.1:p.Lys20Ile
XM_011510666.2:c.59A>T XP_011508968.1:p.Lys20Ile
NM_152515.5:c.554A>T MANE Select NP_689728.3:p.Lys185Ile
NM_001304361.2:c.59A>T NP_001291290.1:p.Lys20Ile
NR_130712.2:n.489+76A>T