Canonical Allele Identifier: CA349744246

Gene: CERKL

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181573869G>A , CM000664.2:g.181573869G>A	GRCh38
NC_000002.11:g.182438596G>A , CM000664.1:g.182438596G>A	GRCh37
NC_000002.10:g.182146841G>A	NCBI36
NG_021178.1:g.88239C>T
NG_021178.2:g.88239C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201548.5:c.497C>T MANE Select	NP_963842.1:p.Pro166Leu
ENST00000410087.8:c.497C>T MANE Select	ENSP00000386725.3:p.Pro166Leu
NM_001030311.2:c.497C>T	NP_001025482.1:p.Pro166Leu
NM_001030311.3:c.497C>T	NP_001025482.1:p.Pro166Leu
NM_001030312.2:c.482-24161C>T	NP_001025483.1:n.482-24161C>T
NM_001030312.3:c.482-24161C>T	NP_001025483.1:n.482-24161C>T
NM_001030313.2:c.497C>T	NP_001025484.1:p.Pro166Leu
NM_001030313.3:c.497C>T	NP_001025484.1:p.Pro166Leu
NM_001160277.1:c.482-7748C>T	NP_001153749.1:n.482-7748C>T
NM_001160277.2:c.482-7748C>T	NP_001153749.1:n.482-7748C>T
NM_201548.4:c.497C>T	NP_963842.1:p.Pro166Leu
NR_027689.1:n.583-15161C>T
NR_027689.2:n.581-15161C>T
NR_027690.1:n.598C>T
NR_027690.2:n.596C>T
ENST00000339098.9:c.497C>T	ENSP00000341159.5:p.Pro166Leu
ENST00000374967.6:c.497C>T	ENSP00000364106.2:p.Pro166Leu
ENST00000374969.6:c.482-24161C>T	ENSP00000364108.2:n.482-24161C>T
ENST00000374970.6:c.497C>T	ENSP00000364109.2:p.Pro166Leu
ENST00000409440.7:c.482-7748C>T	ENSP00000387080.3:n.482-7748C>T
ENST00000410087.7:c.497C>T	ENSP00000386725.3:p.Pro166Leu
ENST00000421817.5:c.482-15161C>T	ENSP00000411466.1:n.482-15161C>T
ENST00000452174.5:c.482-15161C>T	ENSP00000409198.1:n.482-15161C>T
ENST00000460319.5:n.416C>T
ENST00000466715.5:n.377C>T
ENST00000476070.1:n.396C>T
ENST00000479558.5:n.495C>T
ENST00000494398.5:n.497C>T
ENST00000684145.1:c.-196C>T	ENSP00000508396.1:n.-196C>T