Canonical Allele Identifier: CA349734326
Community Standard Title: NM_201548.5(CERKL):c.1365+1G>A
Gene: CERKL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181544699C>T , CM000664.2:g.181544699C>T GRCh38
NC_000002.11:g.182409426C>T , CM000664.1:g.182409426C>T GRCh37
NC_000002.10:g.182117671C>T NCBI36
NG_021178.1:g.117409G>A
NG_021178.2:g.117409G>A

Transcript Alleles

HGVS Amino-acid Change
NM_201548.5:c.1365+1G>A MANE Select NP_963842.1:n.1365+1G>A
ENST00000410087.8:c.1365+1G>A MANE Select ENSP00000386725.3:n.1365+1G>A
NM_001030311.2:c.1443+1G>A NP_001025482.1:n.1443+1G>A
NM_001030311.3:c.1443+1G>A NP_001025482.1:n.1443+1G>A
NM_001030312.2:c.1026+1G>A NP_001025483.1:n.1026+1G>A
NM_001030312.3:c.1026+1G>A NP_001025483.1:n.1026+1G>A
NM_001030313.2:c.1158+1G>A NP_001025484.1:n.1158+1G>A
NM_001030313.3:c.1158+1G>A NP_001025484.1:n.1158+1G>A
NM_001160277.1:c.1311+1G>A NP_001153749.1:n.1311+1G>A
NM_001160277.2:c.1311+1G>A NP_001153749.1:n.1311+1G>A
NM_201548.4:c.1365+1G>A NP_963842.1:n.1365+1G>A
NR_027689.1:n.1270+1G>A
NR_027689.2:n.1268+1G>A
NR_027690.1:n.1402+1G>A
NR_027690.2:n.1400+1G>A
ENST00000339098.9:c.1443+1G>A ENSP00000341159.5:n.1443+1G>A
ENST00000374967.6:c.1301+1G>A ENSP00000364106.2:n.1301+1G>A
ENST00000374969.6:c.1026+1G>A ENSP00000364108.2:n.1026+1G>A
ENST00000374970.6:c.1158+1G>A ENSP00000364109.2:n.1158+1G>A
ENST00000409440.7:c.1311+1G>A ENSP00000387080.3:n.1311+1G>A
ENST00000410087.7:c.1365+1G>A ENSP00000386725.3:n.1365+1G>A
ENST00000421817.5:c.*621+1G>A ENSP00000411466.1:n.*621+1G>A
ENST00000452174.5:c.1169+1G>A ENSP00000409198.1:n.1169+1G>A
ENST00000494398.5:n.2157+1G>A
ENST00000684145.1:c.609+1G>A ENSP00000508396.1:n.609+1G>A