Canonical Allele Identifier: CA349740533

Gene: CERKL

Linked Data

• gnomAD v4: 2-181558629-T-A
• MyVariant Identifiers: chr2:g.182423356T>A (hg19) ; chr2:g.181558629T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558629T>A , CM000664.2:g.181558629T>A	GRCh38
NC_000002.11:g.182423356T>A , CM000664.1:g.182423356T>A	GRCh37
NC_000002.10:g.182131601T>A	NCBI36
NG_021178.1:g.103479A>T
NG_021178.2:g.103479A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684145.1:c.1A>T	ENSP00000508396.1:p.Met1Leu
ENST00000410087.8:c.757A>T MANE Select	ENSP00000386725.3:p.Met253Leu
ENST00000339098.9:c.835A>T	ENSP00000341159.5:p.Met279Leu
ENST00000374967.6:c.693A>T	ENSP00000364106.2:n.693A>T
ENST00000374969.6:c.482-8921A>T	ENSP00000364108.2:n.482-8921A>T
ENST00000374970.6:c.614-8921A>T	ENSP00000364109.2:n.614-8921A>T
ENST00000409440.7:c.703A>T	ENSP00000387080.3:p.Met235Leu
ENST00000410087.7:c.757A>T	ENSP00000386725.3:p.Met253Leu
ENST00000421817.5:c.*39A>T	ENSP00000411466.1:n.*39A>T
ENST00000452174.5:c.561A>T	ENSP00000409198.1:n.561A>T
ENST00000479558.5:n.755A>T
ENST00000494398.5:n.757A>T
NM_001030311.2:c.835A>T	NP_001025482.1:p.Met279Leu
NM_001030312.2:c.482-8921A>T	NP_001025483.1:n.482-8921A>T
NM_001030313.2:c.614-8921A>T	NP_001025484.1:n.614-8921A>T
NM_001160277.1:c.703A>T	NP_001153749.1:p.Met235Leu
NM_201548.4:c.757A>T	NP_963842.1:p.Met253Leu
NR_027689.1:n.662A>T
NR_027690.1:n.794A>T
NM_201548.5:c.757A>T MANE Select	NP_963842.1:p.Met253Leu
NM_001030311.3:c.835A>T	NP_001025482.1:p.Met279Leu
NM_001030312.3:c.482-8921A>T	NP_001025483.1:n.482-8921A>T
NM_001030313.3:c.614-8921A>T	NP_001025484.1:n.614-8921A>T
NM_001160277.2:c.703A>T	NP_001153749.1:p.Met235Leu
NR_027689.2:n.660A>T
NR_027690.2:n.792A>T