Canonical Allele Identifier: CA349746038
Community Standard Title: NM_201548.5(CERKL):c.2T>G (p.Met1Arg)
Gene: CERKL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181657005A>C , CM000664.2:g.181657005A>C GRCh38
NC_000002.11:g.182521732A>C , CM000664.1:g.182521732A>C GRCh37
NC_000002.10:g.182229977A>C NCBI36
NG_021178.1:g.5103T>G
NG_021178.2:g.5103T>G

Transcript Alleles

HGVS Amino-acid Change
NM_201548.5:c.2T>G MANE Select NP_963842.1:p.Met1Arg
ENST00000410087.8:c.2T>G MANE Select ENSP00000386725.3:p.Met1Arg
NM_001030311.2:c.2T>G NP_001025482.1:p.Met1Arg
NM_001030311.3:c.2T>G NP_001025482.1:p.Met1Arg
NM_001030312.2:c.2T>G NP_001025483.1:p.Met1Arg
NM_001030312.3:c.2T>G NP_001025483.1:p.Met1Arg
NM_001030313.2:c.2T>G NP_001025484.1:p.Met1Arg
NM_001030313.3:c.2T>G NP_001025484.1:p.Met1Arg
NM_001160277.1:c.2T>G NP_001153749.1:p.Met1Arg
NM_001160277.2:c.2T>G NP_001153749.1:p.Met1Arg
NM_201548.4:c.2T>G NP_963842.1:p.Met1Arg
NR_027689.1:n.103T>G
NR_027689.2:n.101T>G
NR_027690.1:n.103T>G
NR_027690.2:n.101T>G
ENST00000339098.9:c.2T>G ENSP00000341159.5:p.Met1Arg
ENST00000374967.6:c.2T>G ENSP00000364106.2:p.Met1Arg
ENST00000374969.6:c.2T>G ENSP00000364108.2:p.Met1Arg
ENST00000374970.6:c.2T>G ENSP00000364109.2:p.Met1Arg
ENST00000409440.7:c.2T>G ENSP00000387080.3:p.Met1Arg
ENST00000410087.7:c.2T>G ENSP00000386725.3:p.Met1Arg
ENST00000421817.5:c.2T>G ENSP00000411466.1:p.Met1Arg
ENST00000452174.5:c.2T>G ENSP00000409198.1:p.Met1Arg
ENST00000476070.1:n.112T>G
ENST00000479558.5:n.236+23425T>G
ENST00000494398.5:n.2T>G
ENST00000497337.1:n.212+23425T>G
ENST00000684145.1:c.-455+23425T>G ENSP00000508396.1:n.-455+23425T>G