Canonical Allele Identifier: CA1311924562

Gene: CERKL

Linked Data

• ClinVar Variation Id: 2813143
• ClinVar RCV Id: RCV003677855
• dbSNP Id: rs769531618
• gnomAD v4: 2-181558550-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558550G>A , CM000664.2:g.181558550G>A	GRCh38
NC_000002.11:g.182423277G>A , CM000664.1:g.182423277G>A	GRCh37
NC_000002.10:g.182131522G>A	NCBI36
NG_021178.1:g.103558C>T
NG_021178.2:g.103558C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684145.1:c.64+16C>T	ENSP00000508396.1:n.64+16C>T
ENST00000410087.8:c.820+16C>T MANE Select	ENSP00000386725.3:n.820+16C>T
ENST00000339098.9:c.898+16C>T	ENSP00000341159.5:n.898+16C>T
ENST00000374967.6:c.756+16C>T	ENSP00000364106.2:n.756+16C>T
ENST00000374969.6:c.482-8842C>T	ENSP00000364108.2:n.482-8842C>T
ENST00000374970.6:c.614-8842C>T	ENSP00000364109.2:n.614-8842C>T
ENST00000409440.7:c.766+16C>T	ENSP00000387080.3:n.766+16C>T
ENST00000410087.7:c.820+16C>T	ENSP00000386725.3:n.820+16C>T
ENST00000421817.5:c.*102+16C>T	ENSP00000411466.1:n.*102+16C>T
ENST00000452174.5:c.624+16C>T	ENSP00000409198.1:n.624+16C>T
ENST00000479558.5:n.818+16C>T
ENST00000494398.5:n.820+16C>T
NM_001030311.2:c.898+16C>T	NP_001025482.1:n.898+16C>T
NM_001030312.2:c.482-8842C>T	NP_001025483.1:n.482-8842C>T
NM_001030313.2:c.614-8842C>T	NP_001025484.1:n.614-8842C>T
NM_001160277.1:c.766+16C>T	NP_001153749.1:n.766+16C>T
NM_201548.4:c.820+16C>T	NP_963842.1:n.820+16C>T
NR_027689.1:n.725+16C>T
NR_027690.1:n.857+16C>T
NM_201548.5:c.820+16C>T MANE Select	NP_963842.1:n.820+16C>T
NM_001030311.3:c.898+16C>T	NP_001025482.1:n.898+16C>T
NM_001030312.3:c.482-8842C>T	NP_001025483.1:n.482-8842C>T
NM_001030313.3:c.614-8842C>T	NP_001025484.1:n.614-8842C>T
NM_001160277.2:c.766+16C>T	NP_001153749.1:n.766+16C>T
NR_027689.2:n.723+16C>T
NR_027690.2:n.855+16C>T