Canonical Allele Identifier: CA239053

Gene: CERKL

Linked Data

• ClinVar Variation Id: 193519
• ClinVar RCV Id: RCV000173594 ; RCV001138677 ; RCV001271353 ; RCV001699051 ; RCV003917605
• dbSNP Id: rs368855330
• ExAC: 2:182521707 C / T
• gnomAD v2: 2-182521707-C-T
• gnomAD v3: 2-181656980-C-T
• gnomAD v4: 2-181656980-C-T
• MyVariant Identifiers: chr2:g.182521707C>T (hg19) ; chr2:g.181656980C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181656980C>T , CM000664.2:g.181656980C>T	GRCh38
NC_000002.11:g.182521707C>T , CM000664.1:g.182521707C>T	GRCh37
NC_000002.10:g.182229952C>T	NCBI36
NG_021178.1:g.5128G>A
NG_021178.2:g.5128G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-455+23450G>A	ENSP00000508396.1:n.-455+23450G>A
ENST00000410087.8:c.27G>A MANE Select	ENSP00000386725.3:p.Arg9=
ENST00000339098.9:c.27G>A	ENSP00000341159.5:p.Arg9=
ENST00000374967.6:c.27G>A	ENSP00000364106.2:p.Arg9=
ENST00000374969.6:c.27G>A	ENSP00000364108.2:p.Arg9=
ENST00000374970.6:c.27G>A	ENSP00000364109.2:p.Arg9=
ENST00000409440.7:c.27G>A	ENSP00000387080.3:p.Arg9=
ENST00000410087.7:c.27G>A	ENSP00000386725.3:p.Arg9=
ENST00000421817.5:c.27G>A	ENSP00000411466.1:p.Arg9=
ENST00000452174.5:c.27G>A	ENSP00000409198.1:p.Arg9=
ENST00000476070.1:n.137G>A
ENST00000479558.5:n.236+23450G>A
ENST00000494398.5:n.27G>A
ENST00000497337.1:n.212+23450G>A
NM_001030311.2:c.27G>A	NP_001025482.1:p.Arg9=
NM_001030312.2:c.27G>A	NP_001025483.1:p.Arg9=
NM_001030313.2:c.27G>A	NP_001025484.1:p.Arg9=
NM_001160277.1:c.27G>A	NP_001153749.1:p.Arg9=
NM_201548.4:c.27G>A	NP_963842.1:p.Arg9=
NR_027689.1:n.128G>A
NR_027690.1:n.128G>A
NM_201548.5:c.27G>A MANE Select	NP_963842.1:p.Arg9=
NM_001030311.3:c.27G>A	NP_001025482.1:p.Arg9=
NM_001030312.3:c.27G>A	NP_001025483.1:p.Arg9=
NM_001030313.3:c.27G>A	NP_001025484.1:p.Arg9=
NM_001160277.2:c.27G>A	NP_001153749.1:p.Arg9=
NR_027689.2:n.126G>A
NR_027690.2:n.126G>A