Canonical Allele Identifier: CA2010660

Gene: CERKL

Linked Data

• dbSNP Id: rs761272654
• ExAC: 2:182423310 A / G
• gnomAD v2: 2-182423310-A-G
• gnomAD v4: 2-181558583-A-G
• MyVariant Identifiers: chr2:g.182423310A>G (hg19) ; chr2:g.181558583A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558583A>G , CM000664.2:g.181558583A>G	GRCh38
NC_000002.11:g.182423310A>G , CM000664.1:g.182423310A>G	GRCh37
NC_000002.10:g.182131555A>G	NCBI36
NG_021178.1:g.103525T>C
NG_021178.2:g.103525T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.47T>C	ENSP00000508396.1:p.Leu16Pro
ENST00000410087.8:c.803T>C MANE Select	ENSP00000386725.3:p.Leu268Pro
ENST00000339098.9:c.881T>C	ENSP00000341159.5:p.Leu294Pro
ENST00000374967.6:c.739T>C	ENSP00000364106.2:n.739T>C
ENST00000374969.6:c.482-8875T>C	ENSP00000364108.2:n.482-8875T>C
ENST00000374970.6:c.614-8875T>C	ENSP00000364109.2:n.614-8875T>C
ENST00000409440.7:c.749T>C	ENSP00000387080.3:p.Leu250Pro
ENST00000410087.7:c.803T>C	ENSP00000386725.3:p.Leu268Pro
ENST00000421817.5:c.*85T>C	ENSP00000411466.1:n.*85T>C
ENST00000452174.5:c.607T>C	ENSP00000409198.1:n.607T>C
ENST00000479558.5:n.801T>C
ENST00000494398.5:n.803T>C
NM_001030311.2:c.881T>C	NP_001025482.1:p.Leu294Pro
NM_001030312.2:c.482-8875T>C	NP_001025483.1:n.482-8875T>C
NM_001030313.2:c.614-8875T>C	NP_001025484.1:n.614-8875T>C
NM_001160277.1:c.749T>C	NP_001153749.1:p.Leu250Pro
NM_201548.4:c.803T>C	NP_963842.1:p.Leu268Pro
NR_027689.1:n.708T>C
NR_027690.1:n.840T>C
NM_201548.5:c.803T>C MANE Select	NP_963842.1:p.Leu268Pro
NM_001030311.3:c.881T>C	NP_001025482.1:p.Leu294Pro
NM_001030312.3:c.482-8875T>C	NP_001025483.1:n.482-8875T>C
NM_001030313.3:c.614-8875T>C	NP_001025484.1:n.614-8875T>C
NM_001160277.2:c.749T>C	NP_001153749.1:p.Leu250Pro
NR_027689.2:n.706T>C
NR_027690.2:n.838T>C