Canonical Allele Identifier: CA349740042
Gene: CERKL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181558568G>A , CM000664.2:g.181558568G>A GRCh38
NC_000002.11:g.182423295G>A , CM000664.1:g.182423295G>A GRCh37
NC_000002.10:g.182131540G>A NCBI36
NG_021178.1:g.103540C>T
NG_021178.2:g.103540C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684145.1:c.62C>T ENSP00000508396.1:p.Ala21Val
ENST00000410087.8:c.818C>T MANE Select ENSP00000386725.3:p.Ala273Val
ENST00000339098.9:c.896C>T ENSP00000341159.5:p.Ala299Val
ENST00000374967.6:c.754C>T ENSP00000364106.2:n.754C>T
ENST00000374969.6:c.482-8860C>T ENSP00000364108.2:n.482-8860C>T
ENST00000374970.6:c.614-8860C>T ENSP00000364109.2:n.614-8860C>T
ENST00000409440.7:c.764C>T ENSP00000387080.3:p.Ala255Val
ENST00000410087.7:c.818C>T ENSP00000386725.3:p.Ala273Val
ENST00000421817.5:c.*100C>T ENSP00000411466.1:n.*100C>T
ENST00000452174.5:c.622C>T ENSP00000409198.1:n.622C>T
ENST00000479558.5:n.816C>T
ENST00000494398.5:n.818C>T
NM_001030311.2:c.896C>T NP_001025482.1:p.Ala299Val
NM_001030312.2:c.482-8860C>T NP_001025483.1:n.482-8860C>T
NM_001030313.2:c.614-8860C>T NP_001025484.1:n.614-8860C>T
NM_001160277.1:c.764C>T NP_001153749.1:p.Ala255Val
NM_201548.4:c.818C>T NP_963842.1:p.Ala273Val
NR_027689.1:n.723C>T
NR_027690.1:n.855C>T
NM_201548.5:c.818C>T MANE Select NP_963842.1:p.Ala273Val
NM_001030311.3:c.896C>T NP_001025482.1:p.Ala299Val
NM_001030312.3:c.482-8860C>T NP_001025483.1:n.482-8860C>T
NM_001030313.3:c.614-8860C>T NP_001025484.1:n.614-8860C>T
NM_001160277.2:c.764C>T NP_001153749.1:p.Ala255Val
NR_027689.2:n.721C>T
NR_027690.2:n.853C>T