Canonical Allele Identifier: CA2010667

Gene: CERKL

Linked Data

• dbSNP Id: rs762961333
• ExAC: 2:182423343 C / A
• gnomAD v4: 2-181558616-C-A
• MyVariant Identifiers: chr2:g.182423343C>A (hg19) ; chr2:g.181558616C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558616C>A , CM000664.2:g.181558616C>A	GRCh38
NC_000002.11:g.182423343C>A , CM000664.1:g.182423343C>A	GRCh37
NC_000002.10:g.182131588C>A	NCBI36
NG_021178.1:g.103492G>T
NG_021178.2:g.103492G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.14G>T	ENSP00000508396.1:p.Arg5Leu
ENST00000410087.8:c.770G>T MANE Select	ENSP00000386725.3:p.Arg257Leu
ENST00000339098.9:c.848G>T	ENSP00000341159.5:p.Arg283Leu
ENST00000374967.6:c.706G>T	ENSP00000364106.2:n.706G>T
ENST00000374969.6:c.482-8908G>T	ENSP00000364108.2:n.482-8908G>T
ENST00000374970.6:c.614-8908G>T	ENSP00000364109.2:n.614-8908G>T
ENST00000409440.7:c.716G>T	ENSP00000387080.3:p.Arg239Leu
ENST00000410087.7:c.770G>T	ENSP00000386725.3:p.Arg257Leu
ENST00000421817.5:c.*52G>T	ENSP00000411466.1:n.*52G>T
ENST00000452174.5:c.574G>T	ENSP00000409198.1:n.574G>T
ENST00000479558.5:n.768G>T
ENST00000494398.5:n.770G>T
NM_001030311.2:c.848G>T	NP_001025482.1:p.Arg283Leu
NM_001030312.2:c.482-8908G>T	NP_001025483.1:n.482-8908G>T
NM_001030313.2:c.614-8908G>T	NP_001025484.1:n.614-8908G>T
NM_001160277.1:c.716G>T	NP_001153749.1:p.Arg239Leu
NM_201548.4:c.770G>T	NP_963842.1:p.Arg257Leu
NR_027689.1:n.675G>T
NR_027690.1:n.807G>T
NM_201548.5:c.770G>T MANE Select	NP_963842.1:p.Arg257Leu
NM_001030311.3:c.848G>T	NP_001025482.1:p.Arg283Leu
NM_001030312.3:c.482-8908G>T	NP_001025483.1:n.482-8908G>T
NM_001030313.3:c.614-8908G>T	NP_001025484.1:n.614-8908G>T
NM_001160277.2:c.716G>T	NP_001153749.1:p.Arg239Leu
NR_027689.2:n.673G>T
NR_027690.2:n.805G>T