Canonical Allele Identifier: CA349740150

Gene: CERKL

Linked Data

• MyVariant Identifiers: chr2:g.182423317G>A (hg19) ; chr2:g.181558590G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558590G>A , CM000664.2:g.181558590G>A	GRCh38
NC_000002.11:g.182423317G>A , CM000664.1:g.182423317G>A	GRCh37
NC_000002.10:g.182131562G>A	NCBI36
NG_021178.1:g.103518C>T
NG_021178.2:g.103518C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.40C>T	ENSP00000508396.1:p.Leu14Phe
ENST00000410087.8:c.796C>T MANE Select	ENSP00000386725.3:p.Leu266Phe
ENST00000339098.9:c.874C>T	ENSP00000341159.5:p.Leu292Phe
ENST00000374967.6:c.732C>T	ENSP00000364106.2:n.732C>T
ENST00000374969.6:c.482-8882C>T	ENSP00000364108.2:n.482-8882C>T
ENST00000374970.6:c.614-8882C>T	ENSP00000364109.2:n.614-8882C>T
ENST00000409440.7:c.742C>T	ENSP00000387080.3:p.Leu248Phe
ENST00000410087.7:c.796C>T	ENSP00000386725.3:p.Leu266Phe
ENST00000421817.5:c.*78C>T	ENSP00000411466.1:n.*78C>T
ENST00000452174.5:c.600C>T	ENSP00000409198.1:n.600C>T
ENST00000479558.5:n.794C>T
ENST00000494398.5:n.796C>T
NM_001030311.2:c.874C>T	NP_001025482.1:p.Leu292Phe
NM_001030312.2:c.482-8882C>T	NP_001025483.1:n.482-8882C>T
NM_001030313.2:c.614-8882C>T	NP_001025484.1:n.614-8882C>T
NM_001160277.1:c.742C>T	NP_001153749.1:p.Leu248Phe
NM_201548.4:c.796C>T	NP_963842.1:p.Leu266Phe
NR_027689.1:n.701C>T
NR_027690.1:n.833C>T
NM_201548.5:c.796C>T MANE Select	NP_963842.1:p.Leu266Phe
NM_001030311.3:c.874C>T	NP_001025482.1:p.Leu292Phe
NM_001030312.3:c.482-8882C>T	NP_001025483.1:n.482-8882C>T
NM_001030313.3:c.614-8882C>T	NP_001025484.1:n.614-8882C>T
NM_001160277.2:c.742C>T	NP_001153749.1:p.Leu248Phe
NR_027689.2:n.699C>T
NR_027690.2:n.831C>T