Canonical Allele Identifier: CA430407667

Gene: CERKL

Linked Data

• ClinVar Variation Id: 1619123
• ClinVar RCV Id: RCV002086496
• dbSNP Id: rs1472374122
• MyVariant Identifiers: chr2:g.182423338G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558611G>A , CM000664.2:g.181558611G>A	GRCh38
NC_000002.11:g.182423338G>A , CM000664.1:g.182423338G>A	GRCh37
NC_000002.10:g.182131583G>A	NCBI36
NG_021178.1:g.103497C>T
NG_021178.2:g.103497C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684145.1:c.19C>T	ENSP00000508396.1:p.Leu7=
ENST00000410087.8:c.775C>T MANE Select	ENSP00000386725.3:p.Leu259=
ENST00000339098.9:c.853C>T	ENSP00000341159.5:p.Leu285=
ENST00000374967.6:c.711C>T	ENSP00000364106.2:n.711C>T
ENST00000374969.6:c.482-8903C>T	ENSP00000364108.2:n.482-8903C>T
ENST00000374970.6:c.614-8903C>T	ENSP00000364109.2:n.614-8903C>T
ENST00000409440.7:c.721C>T	ENSP00000387080.3:p.Leu241=
ENST00000410087.7:c.775C>T	ENSP00000386725.3:p.Leu259=
ENST00000421817.5:c.*57C>T	ENSP00000411466.1:n.*57C>T
ENST00000452174.5:c.579C>T	ENSP00000409198.1:n.579C>T
ENST00000479558.5:n.773C>T
ENST00000494398.5:n.775C>T
NM_001030311.2:c.853C>T	NP_001025482.1:p.Leu285=
NM_001030312.2:c.482-8903C>T	NP_001025483.1:n.482-8903C>T
NM_001030313.2:c.614-8903C>T	NP_001025484.1:n.614-8903C>T
NM_001160277.1:c.721C>T	NP_001153749.1:p.Leu241=
NM_201548.4:c.775C>T	NP_963842.1:p.Leu259=
NR_027689.1:n.680C>T
NR_027690.1:n.812C>T
NM_201548.5:c.775C>T MANE Select	NP_963842.1:p.Leu259=
NM_001030311.3:c.853C>T	NP_001025482.1:p.Leu285=
NM_001030312.3:c.482-8903C>T	NP_001025483.1:n.482-8903C>T
NM_001030313.3:c.614-8903C>T	NP_001025484.1:n.614-8903C>T
NM_001160277.2:c.721C>T	NP_001153749.1:p.Leu241=
NR_027689.2:n.678C>T
NR_027690.2:n.810C>T