Canonical Allele Identifier: CA349733226
Community Standard Title: NM_201548.5(CERKL):c.1465A>T (p.Thr489Ser)
Gene: CERKL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181539165T>A , CM000664.2:g.181539165T>A GRCh38
NC_000002.11:g.182403892T>A , CM000664.1:g.182403892T>A GRCh37
NC_000002.10:g.182112137T>A NCBI36
NG_021178.1:g.122943A>T
NG_050623.1:g.87274T>A
NG_021178.2:g.122943A>T

Transcript Alleles

HGVS Amino-acid Change
NM_201548.5:c.1465A>T MANE Select NP_963842.1:p.Thr489Ser
ENST00000410087.8:c.1465A>T MANE Select ENSP00000386725.3:p.Thr489Ser
NM_001030311.2:c.1543A>T NP_001025482.1:p.Thr515Ser
NM_001030311.3:c.1543A>T NP_001025482.1:p.Thr515Ser
NM_001030312.2:c.1126A>T NP_001025483.1:p.Thr376Ser
NM_001030312.3:c.1126A>T NP_001025483.1:p.Thr376Ser
NM_001030313.2:c.1258A>T NP_001025484.1:p.Thr420Ser
NM_001030313.3:c.1258A>T NP_001025484.1:p.Thr420Ser
NM_001160277.1:c.1411A>T NP_001153749.1:p.Thr471Ser
NM_001160277.2:c.1411A>T NP_001153749.1:p.Thr471Ser
NM_201548.4:c.1465A>T NP_963842.1:p.Thr489Ser
NR_027689.1:n.1370A>T
NR_027689.2:n.1368A>T
NR_027690.1:n.1502A>T
NR_027690.2:n.1500A>T
ENST00000339098.9:c.1543A>T ENSP00000341159.5:p.Thr515Ser
ENST00000374967.6:c.1401A>T ENSP00000364106.2:n.1401A>T
ENST00000374969.6:c.1126A>T ENSP00000364108.2:p.Thr376Ser
ENST00000374970.6:c.1258A>T ENSP00000364109.2:p.Thr420Ser
ENST00000409440.7:c.1411A>T ENSP00000387080.3:p.Thr471Ser
ENST00000410087.7:c.1465A>T ENSP00000386725.3:p.Thr489Ser
ENST00000421817.5:c.*721A>T ENSP00000411466.1:n.*721A>T
ENST00000452174.5:c.1269A>T ENSP00000409198.1:n.1269A>T
ENST00000494398.5:n.2257A>T
ENST00000684145.1:c.709A>T ENSP00000508396.1:p.Thr237Ser