Canonical Allele Identifier: CA2010659

Gene: CERKL

Linked Data

• dbSNP Id: rs375777581
• ExAC: 2:182423298 G / A
• gnomAD v2: 2-182423298-G-A
• MyVariant Identifiers: chr2:g.182423298G>A (hg19) ; chr2:g.181558571G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558571G>A , CM000664.2:g.181558571G>A	GRCh38
NC_000002.11:g.182423298G>A , CM000664.1:g.182423298G>A	GRCh37
NC_000002.10:g.182131543G>A	NCBI36
NG_021178.1:g.103537C>T
NG_021178.2:g.103537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.59C>T	ENSP00000508396.1:p.Pro20Leu
ENST00000410087.8:c.815C>T MANE Select	ENSP00000386725.3:p.Pro272Leu
ENST00000339098.9:c.893C>T	ENSP00000341159.5:p.Pro298Leu
ENST00000374967.6:c.751C>T	ENSP00000364106.2:n.751C>T
ENST00000374969.6:c.482-8863C>T	ENSP00000364108.2:n.482-8863C>T
ENST00000374970.6:c.614-8863C>T	ENSP00000364109.2:n.614-8863C>T
ENST00000409440.7:c.761C>T	ENSP00000387080.3:p.Pro254Leu
ENST00000410087.7:c.815C>T	ENSP00000386725.3:p.Pro272Leu
ENST00000421817.5:c.*97C>T	ENSP00000411466.1:n.*97C>T
ENST00000452174.5:c.619C>T	ENSP00000409198.1:n.619C>T
ENST00000479558.5:n.813C>T
ENST00000494398.5:n.815C>T
NM_001030311.2:c.893C>T	NP_001025482.1:p.Pro298Leu
NM_001030312.2:c.482-8863C>T	NP_001025483.1:n.482-8863C>T
NM_001030313.2:c.614-8863C>T	NP_001025484.1:n.614-8863C>T
NM_001160277.1:c.761C>T	NP_001153749.1:p.Pro254Leu
NM_201548.4:c.815C>T	NP_963842.1:p.Pro272Leu
NR_027689.1:n.720C>T
NR_027690.1:n.852C>T
NM_201548.5:c.815C>T MANE Select	NP_963842.1:p.Pro272Leu
NM_001030311.3:c.893C>T	NP_001025482.1:p.Pro298Leu
NM_001030312.3:c.482-8863C>T	NP_001025483.1:n.482-8863C>T
NM_001030313.3:c.614-8863C>T	NP_001025484.1:n.614-8863C>T
NM_001160277.2:c.761C>T	NP_001153749.1:p.Pro254Leu
NR_027689.2:n.718C>T
NR_027690.2:n.850C>T