Canonical Allele Identifier: CA349733441
Community Standard Title: NM_201548.5(CERKL):c.1392C>G (p.Tyr464Ter)
Gene: CERKL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181539238G>C , CM000664.2:g.181539238G>C GRCh38
NC_000002.11:g.182403965G>C , CM000664.1:g.182403965G>C GRCh37
NC_000002.10:g.182112210G>C NCBI36
NG_021178.1:g.122870C>G
NG_050623.1:g.87347G>C
NG_021178.2:g.122870C>G

Transcript Alleles

HGVS Amino-acid Change
NM_201548.5:c.1392C>G MANE Select NP_963842.1:p.Tyr464Ter
ENST00000410087.8:c.1392C>G MANE Select ENSP00000386725.3:p.Tyr464Ter
NM_001030311.2:c.1470C>G NP_001025482.1:p.Tyr490Ter
NM_001030311.3:c.1470C>G NP_001025482.1:p.Tyr490Ter
NM_001030312.2:c.1053C>G NP_001025483.1:p.Tyr351Ter
NM_001030312.3:c.1053C>G NP_001025483.1:p.Tyr351Ter
NM_001030313.2:c.1185C>G NP_001025484.1:p.Tyr395Ter
NM_001030313.3:c.1185C>G NP_001025484.1:p.Tyr395Ter
NM_001160277.1:c.1338C>G NP_001153749.1:p.Tyr446Ter
NM_001160277.2:c.1338C>G NP_001153749.1:p.Tyr446Ter
NM_201548.4:c.1392C>G NP_963842.1:p.Tyr464Ter
NR_027689.1:n.1297C>G
NR_027689.2:n.1295C>G
NR_027690.1:n.1429C>G
NR_027690.2:n.1427C>G
ENST00000339098.9:c.1470C>G ENSP00000341159.5:p.Tyr490Ter
ENST00000374967.6:c.1328C>G ENSP00000364106.2:n.1328C>G
ENST00000374969.6:c.1053C>G ENSP00000364108.2:p.Tyr351Ter
ENST00000374970.6:c.1185C>G ENSP00000364109.2:p.Tyr395Ter
ENST00000409440.7:c.1338C>G ENSP00000387080.3:p.Tyr446Ter
ENST00000410087.7:c.1392C>G ENSP00000386725.3:p.Tyr464Ter
ENST00000421817.5:c.*648C>G ENSP00000411466.1:n.*648C>G
ENST00000452174.5:c.1196C>G ENSP00000409198.1:n.1196C>G
ENST00000494398.5:n.2184C>G
ENST00000684145.1:c.636C>G ENSP00000508396.1:p.Tyr212Ter