Canonical Allele Identifier: CA10606979

Gene: CERKL

Linked Data

• ClinVar Variation Id: 291001
• ClinVar RCV Id: RCV000340734 ; RCV003469250
• dbSNP Id: rs770284500
• MyVariant Identifiers: chr2:g.182409445A>T (hg19) ; chr2:g.181544718A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181544718A>T , CM000664.2:g.181544718A>T	GRCh38
NC_000002.11:g.182409445A>T , CM000664.1:g.182409445A>T	GRCh37
NC_000002.10:g.182117690A>T	NCBI36
NG_021178.1:g.117390T>A
NG_021178.2:g.117390T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.591T>A	ENSP00000508396.1:p.Tyr197Ter
ENST00000410087.8:c.1347T>A MANE Select	ENSP00000386725.3:p.Tyr449Ter
ENST00000339098.9:c.1425T>A	ENSP00000341159.5:p.Tyr475Ter
ENST00000374967.6:c.1283T>A	ENSP00000364106.2:n.1283T>A
ENST00000374969.6:c.1008T>A	ENSP00000364108.2:p.Tyr336Ter
ENST00000374970.6:c.1140T>A	ENSP00000364109.2:p.Tyr380Ter
ENST00000409440.7:c.1293T>A	ENSP00000387080.3:p.Tyr431Ter
ENST00000410087.7:c.1347T>A	ENSP00000386725.3:p.Tyr449Ter
ENST00000421817.5:c.*603T>A	ENSP00000411466.1:n.*603T>A
ENST00000452174.5:c.1151T>A	ENSP00000409198.1:n.1151T>A
ENST00000494398.5:n.2139T>A
NM_001030311.2:c.1425T>A	NP_001025482.1:p.Tyr475Ter
NM_001030312.2:c.1008T>A	NP_001025483.1:p.Tyr336Ter
NM_001030313.2:c.1140T>A	NP_001025484.1:p.Tyr380Ter
NM_001160277.1:c.1293T>A	NP_001153749.1:p.Tyr431Ter
NM_201548.4:c.1347T>A	NP_963842.1:p.Tyr449Ter
NR_027689.1:n.1252T>A
NR_027690.1:n.1384T>A
NM_201548.5:c.1347T>A MANE Select	NP_963842.1:p.Tyr449Ter
NM_001030311.3:c.1425T>A	NP_001025482.1:p.Tyr475Ter
NM_001030312.3:c.1008T>A	NP_001025483.1:p.Tyr336Ter
NM_001030313.3:c.1140T>A	NP_001025484.1:p.Tyr380Ter
NM_001160277.2:c.1293T>A	NP_001153749.1:p.Tyr431Ter
NR_027689.2:n.1250T>A
NR_027690.2:n.1382T>A