Canonical Allele Identifier: CA61590032

Gene: CERKL

Linked Data

• ClinVar Variation Id: 1516196
• ClinVar RCV Id: RCV002023772
• dbSNP Id: rs541121385
• gnomAD v3: 2-181558623-T-C
• gnomAD v4: 2-181558623-T-C
• MyVariant Identifiers: chr2:g.182423350T>C (hg19) ; chr2:g.181558623T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558623T>C , CM000664.2:g.181558623T>C	GRCh38
NC_000002.11:g.182423350T>C , CM000664.1:g.182423350T>C	GRCh37
NC_000002.10:g.182131595T>C	NCBI36
NG_021178.1:g.103485A>G
NG_021178.2:g.103485A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.7A>G	ENSP00000508396.1:p.Thr3Ala
ENST00000410087.8:c.763A>G MANE Select	ENSP00000386725.3:p.Thr255Ala
ENST00000339098.9:c.841A>G	ENSP00000341159.5:p.Thr281Ala
ENST00000374967.6:c.699A>G	ENSP00000364106.2:n.699A>G
ENST00000374969.6:c.482-8915A>G	ENSP00000364108.2:n.482-8915A>G
ENST00000374970.6:c.614-8915A>G	ENSP00000364109.2:n.614-8915A>G
ENST00000409440.7:c.709A>G	ENSP00000387080.3:p.Thr237Ala
ENST00000410087.7:c.763A>G	ENSP00000386725.3:p.Thr255Ala
ENST00000421817.5:c.*45A>G	ENSP00000411466.1:n.*45A>G
ENST00000452174.5:c.567A>G	ENSP00000409198.1:n.567A>G
ENST00000479558.5:n.761A>G
ENST00000494398.5:n.763A>G
NM_001030311.2:c.841A>G	NP_001025482.1:p.Thr281Ala
NM_001030312.2:c.482-8915A>G	NP_001025483.1:n.482-8915A>G
NM_001030313.2:c.614-8915A>G	NP_001025484.1:n.614-8915A>G
NM_001160277.1:c.709A>G	NP_001153749.1:p.Thr237Ala
NM_201548.4:c.763A>G	NP_963842.1:p.Thr255Ala
NR_027689.1:n.668A>G
NR_027690.1:n.800A>G
NM_201548.5:c.763A>G MANE Select	NP_963842.1:p.Thr255Ala
NM_001030311.3:c.841A>G	NP_001025482.1:p.Thr281Ala
NM_001030312.3:c.482-8915A>G	NP_001025483.1:n.482-8915A>G
NM_001030313.3:c.614-8915A>G	NP_001025484.1:n.614-8915A>G
NM_001160277.2:c.709A>G	NP_001153749.1:p.Thr237Ala
NR_027689.2:n.666A>G
NR_027690.2:n.798A>G