Canonical Allele Identifier: CA53678607
Community Standard Title: NM_152515.5(CKAP2L):c.1604G>A (p.Gly535Asp)
Gene: CKAP2L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112746574C>T , CM000664.2:g.112746574C>T GRCh38
NC_000002.11:g.113504151C>T , CM000664.1:g.113504151C>T GRCh37
NC_000002.10:g.113220622C>T NCBI36
NG_041820.1:g.23104G>A

Transcript Alleles

HGVS Amino-acid Change
NM_152515.5:c.1604G>A MANE Select NP_689728.3:p.Gly535Asp
ENST00000302450.11:c.1604G>A MANE Select ENSP00000305204.6:p.Gly535Asp
NM_001304361.1:c.1109G>A NP_001291290.1:p.Gly370Asp
NM_001304361.2:c.1109G>A NP_001291290.1:p.Gly370Asp
NM_152515.4:c.1604G>A NP_689728.3:p.Gly535Asp
NR_130712.1:n.925G>A
NR_130712.2:n.857G>A
ENST00000302450.10:c.1604G>A ENSP00000305204.6:p.Gly535Asp
ENST00000435431.5:c.*279G>A ENSP00000414834.1:n.*279G>A
ENST00000474331.1:n.308G>A
XM_011510666.1:c.1109G>A XP_011508968.1:p.Gly370Asp
XM_011510666.2:c.1109G>A XP_011508968.1:p.Gly370Asp