Canonical Allele Identifier: CA4049701
Gene: AKAP12 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.151349575A>C
GRCh37 chr6:g.151670710A>C
Revel Score:
ENST00000402676 (MANE Select) 0.031
ENST00000253332 0.031
ENST00000354675 0.031
ENST00000359755 0.031
gnomAD v2:
6:151670710 A / C
gnomAD v3:
6:151349575 A / C
gnomAD v4:
chr6-151349575-A-C
Joint Max Group AF 0.00002909 (NFE)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.00002627 (NFE)
ClinVar RCV:
RCV004086779
ClinVar Variation:
2224673
dbSNP:
762093745
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151349575A>C , CM000668.2:g.151349575A>C GRCh38
NC_000006.11:g.151670710A>C , CM000668.1:g.151670710A>C GRCh37
NC_000006.10:g.151712403A>C NCBI36
NG_029875.1:g.114577A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402676.7:c.1184A>C MANE Select ENSP00000384537.2:p.Lys395Thr
ENST00000253332.5:c.1184A>C ENSP00000253332.1:p.Lys395Thr
ENST00000354675.10:c.890A>C ENSP00000346702.6:p.Lys297Thr
ENST00000359755.5:c.869A>C ENSP00000352794.5:p.Lys290Thr
ENST00000402676.6:c.1184A>C ENSP00000384537.2:p.Lys395Thr
NM_005100.3:c.1184A>C NP_005091.2:p.Lys395Thr
NM_144497.2:c.890A>C NP_653080.1:p.Lys297Thr
XM_005267233.1:c.1184A>C XP_005267290.1:p.Lys395Thr
XM_005267235.1:c.869A>C XP_005267292.1:p.Lys290Thr
XM_005267235.3:c.869A>C XP_005267292.1:p.Lys290Thr
XM_017011517.2:c.1184A>C XP_016867006.1:p.Lys395Thr
XM_017011518.1:c.815A>C XP_016867007.1:p.Lys272Thr
NM_005100.4:c.1184A>C MANE Select NP_005091.2:p.Lys395Thr
NM_001370346.1:c.869A>C NP_001357275.1:p.Lys290Thr
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