Canonical Allele Identifier: CA349735225

Gene: CERKL

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181547649C>G , CM000664.2:g.181547649C>G	GRCh38
NC_000002.11:g.182412376C>G , CM000664.1:g.182412376C>G	GRCh37
NC_000002.10:g.182120621C>G	NCBI36
NG_021178.1:g.114459G>C
NG_021178.2:g.114459G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_201548.5:c.1237G>C MANE Select	NP_963842.1:p.Val413Leu
ENST00000410087.8:c.1237G>C MANE Select	ENSP00000386725.3:p.Val413Leu
NM_001030311.2:c.1315G>C	NP_001025482.1:p.Val439Leu
NM_001030311.3:c.1315G>C	NP_001025482.1:p.Val439Leu
NM_001030312.2:c.898G>C	NP_001025483.1:p.Val300Leu
NM_001030312.3:c.898G>C	NP_001025483.1:p.Val300Leu
NM_001030313.2:c.1030G>C	NP_001025484.1:p.Val344Leu
NM_001030313.3:c.1030G>C	NP_001025484.1:p.Val344Leu
NM_001160277.1:c.1183G>C	NP_001153749.1:p.Val395Leu
NM_001160277.2:c.1183G>C	NP_001153749.1:p.Val395Leu
NM_201548.4:c.1237G>C	NP_963842.1:p.Val413Leu
NR_027689.1:n.1142G>C
NR_027689.2:n.1140G>C
NR_027690.1:n.1274G>C
NR_027690.2:n.1272G>C
ENST00000339098.9:c.1315G>C	ENSP00000341159.5:p.Val439Leu
ENST00000374967.6:c.1173G>C	ENSP00000364106.2:n.1173G>C
ENST00000374969.6:c.898G>C	ENSP00000364108.2:p.Val300Leu
ENST00000374970.6:c.1030G>C	ENSP00000364109.2:p.Val344Leu
ENST00000409440.7:c.1183G>C	ENSP00000387080.3:p.Val395Leu
ENST00000410087.7:c.1237G>C	ENSP00000386725.3:p.Val413Leu
ENST00000421817.5:c.*493G>C	ENSP00000411466.1:n.*493G>C
ENST00000452174.5:c.1041G>C	ENSP00000409198.1:n.1041G>C
ENST00000479558.5:n.1235G>C
ENST00000494398.5:n.2029G>C
ENST00000684145.1:c.481G>C	ENSP00000508396.1:p.Val161Leu