Canonical Allele Identifier: CA236112

Gene: CERKL

Linked Data

• ClinVar Variation Id: 191145
• ClinVar RCV Id: RCV000171327 ; RCV001257877 ; RCV003987408
• dbSNP Id: rs786205545
• gnomAD v4: 2-181558574-A-G
• MyVariant Identifiers: chr2:g.182423301A>G (hg19) ; chr2:g.181558574A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558574A>G , CM000664.2:g.181558574A>G	GRCh38
NC_000002.11:g.182423301A>G , CM000664.1:g.182423301A>G	GRCh37
NC_000002.10:g.182131546A>G	NCBI36
NG_021178.1:g.103534T>C
NG_021178.2:g.103534T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.56T>C	ENSP00000508396.1:p.Ile19Thr
ENST00000410087.8:c.812T>C MANE Select	ENSP00000386725.3:p.Ile271Thr
ENST00000339098.9:c.890T>C	ENSP00000341159.5:p.Ile297Thr
ENST00000374967.6:c.748T>C	ENSP00000364106.2:n.748T>C
ENST00000374969.6:c.482-8866T>C	ENSP00000364108.2:n.482-8866T>C
ENST00000374970.6:c.614-8866T>C	ENSP00000364109.2:n.614-8866T>C
ENST00000409440.7:c.758T>C	ENSP00000387080.3:p.Ile253Thr
ENST00000410087.7:c.812T>C	ENSP00000386725.3:p.Ile271Thr
ENST00000421817.5:c.*94T>C	ENSP00000411466.1:n.*94T>C
ENST00000452174.5:c.616T>C	ENSP00000409198.1:n.616T>C
ENST00000479558.5:n.810T>C
ENST00000494398.5:n.812T>C
NM_001030311.2:c.890T>C	NP_001025482.1:p.Ile297Thr
NM_001030312.2:c.482-8866T>C	NP_001025483.1:n.482-8866T>C
NM_001030313.2:c.614-8866T>C	NP_001025484.1:n.614-8866T>C
NM_001160277.1:c.758T>C	NP_001153749.1:p.Ile253Thr
NM_201548.4:c.812T>C	NP_963842.1:p.Ile271Thr
NR_027689.1:n.717T>C
NR_027690.1:n.849T>C
NM_201548.5:c.812T>C MANE Select	NP_963842.1:p.Ile271Thr
NM_001030311.3:c.890T>C	NP_001025482.1:p.Ile297Thr
NM_001030312.3:c.482-8866T>C	NP_001025483.1:n.482-8866T>C
NM_001030313.3:c.614-8866T>C	NP_001025484.1:n.614-8866T>C
NM_001160277.2:c.758T>C	NP_001153749.1:p.Ile253Thr
NR_027689.2:n.715T>C
NR_027690.2:n.847T>C