Canonical Allele Identifier: CA349734324
Community Standard Title: NM_201548.5(CERKL):c.1365+2T>C
Gene: CERKL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181544698A>G , CM000664.2:g.181544698A>G GRCh38
NC_000002.11:g.182409425A>G , CM000664.1:g.182409425A>G GRCh37
NC_000002.10:g.182117670A>G NCBI36
NG_021178.1:g.117410T>C
NG_021178.2:g.117410T>C

Transcript Alleles

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