Canonical Allele Identifier: CA349740280

Gene: CERKL

Linked Data

• dbSNP Id: rs1688306915
• gnomAD v3: 2-181558605-G-A
• gnomAD v4: 2-181558605-G-A
• COSMIC: COSM3574798 ; COSM3574799
• MyVariant Identifiers: chr2:g.182423332G>A (hg19) ; chr2:g.181558605G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558605G>A , CM000664.2:g.181558605G>A	GRCh38
NC_000002.11:g.182423332G>A , CM000664.1:g.182423332G>A	GRCh37
NC_000002.10:g.182131577G>A	NCBI36
NG_021178.1:g.103503C>T
NG_021178.2:g.103503C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.25C>T	ENSP00000508396.1:p.Pro9Ser
ENST00000410087.8:c.781C>T MANE Select	ENSP00000386725.3:p.Pro261Ser
ENST00000339098.9:c.859C>T	ENSP00000341159.5:p.Pro287Ser
ENST00000374967.6:c.717C>T	ENSP00000364106.2:n.717C>T
ENST00000374969.6:c.482-8897C>T	ENSP00000364108.2:n.482-8897C>T
ENST00000374970.6:c.614-8897C>T	ENSP00000364109.2:n.614-8897C>T
ENST00000409440.7:c.727C>T	ENSP00000387080.3:p.Pro243Ser
ENST00000410087.7:c.781C>T	ENSP00000386725.3:p.Pro261Ser
ENST00000421817.5:c.*63C>T	ENSP00000411466.1:n.*63C>T
ENST00000452174.5:c.585C>T	ENSP00000409198.1:n.585C>T
ENST00000479558.5:n.779C>T
ENST00000494398.5:n.781C>T
NM_001030311.2:c.859C>T	NP_001025482.1:p.Pro287Ser
NM_001030312.2:c.482-8897C>T	NP_001025483.1:n.482-8897C>T
NM_001030313.2:c.614-8897C>T	NP_001025484.1:n.614-8897C>T
NM_001160277.1:c.727C>T	NP_001153749.1:p.Pro243Ser
NM_201548.4:c.781C>T	NP_963842.1:p.Pro261Ser
NR_027689.1:n.686C>T
NR_027690.1:n.818C>T
NM_201548.5:c.781C>T MANE Select	NP_963842.1:p.Pro261Ser
NM_001030311.3:c.859C>T	NP_001025482.1:p.Pro287Ser
NM_001030312.3:c.482-8897C>T	NP_001025483.1:n.482-8897C>T
NM_001030313.3:c.614-8897C>T	NP_001025484.1:n.614-8897C>T
NM_001160277.2:c.727C>T	NP_001153749.1:p.Pro243Ser
NR_027689.2:n.684C>T
NR_027690.2:n.816C>T