Canonical Allele Identifier: CA2010424

Gene: CERKL

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181539178C>G , CM000664.2:g.181539178C>G	GRCh38
NC_000002.11:g.182403905C>G , CM000664.1:g.182403905C>G	GRCh37
NC_000002.10:g.182112150C>G	NCBI36
NG_021178.1:g.122930G>C
NG_050623.1:g.87287C>G
NG_021178.2:g.122930G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_201548.5:c.1452G>C MANE Select	NP_963842.1:p.Glu484Asp
ENST00000410087.8:c.1452G>C MANE Select	ENSP00000386725.3:p.Glu484Asp
NM_001030311.2:c.1530G>C	NP_001025482.1:p.Glu510Asp
NM_001030311.3:c.1530G>C	NP_001025482.1:p.Glu510Asp
NM_001030312.2:c.1113G>C	NP_001025483.1:p.Glu371Asp
NM_001030312.3:c.1113G>C	NP_001025483.1:p.Glu371Asp
NM_001030313.2:c.1245G>C	NP_001025484.1:p.Glu415Asp
NM_001030313.3:c.1245G>C	NP_001025484.1:p.Glu415Asp
NM_001160277.1:c.1398G>C	NP_001153749.1:p.Glu466Asp
NM_001160277.2:c.1398G>C	NP_001153749.1:p.Glu466Asp
NM_201548.4:c.1452G>C	NP_963842.1:p.Glu484Asp
NR_027689.1:n.1357G>C
NR_027689.2:n.1355G>C
NR_027690.1:n.1489G>C
NR_027690.2:n.1487G>C
ENST00000339098.9:c.1530G>C	ENSP00000341159.5:p.Glu510Asp
ENST00000374967.6:c.1388G>C	ENSP00000364106.2:n.1388G>C
ENST00000374969.6:c.1113G>C	ENSP00000364108.2:p.Glu371Asp
ENST00000374970.6:c.1245G>C	ENSP00000364109.2:p.Glu415Asp
ENST00000409440.7:c.1398G>C	ENSP00000387080.3:p.Glu466Asp
ENST00000410087.7:c.1452G>C	ENSP00000386725.3:p.Glu484Asp
ENST00000421817.5:c.*708G>C	ENSP00000411466.1:n.*708G>C
ENST00000452174.5:c.1256G>C	ENSP00000409198.1:n.1256G>C
ENST00000494398.5:n.2244G>C
ENST00000684145.1:c.696G>C	ENSP00000508396.1:p.Glu232Asp