Canonical Allele Identifier: CA8665462
Community Standard Title: NM_003488.4(AKAP1):c.344C>T (p.Thr115Ile)
Gene: AKAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.57105808C>T , CM000679.2:g.57105808C>T GRCh38
NC_000017.10:g.55183169C>T , CM000679.1:g.55183169C>T GRCh37
NC_000017.9:g.52538168C>T NCBI36
NG_029985.1:g.25617C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003488.4:c.344C>T MANE Select NP_003479.1:p.Thr115Ile
ENST00000337714.8:c.344C>T MANE Select ENSP00000337736.3:p.Thr115Ile
NM_001242902.1:c.344C>T NP_001229831.1:p.Thr115Ile
NM_001242903.1:c.344C>T NP_001229832.1:p.Thr115Ile
NM_001370423.1:c.344C>T NP_001357352.1:p.Thr115Ile
NM_001370424.1:c.344C>T NP_001357353.1:p.Thr115Ile
NM_001370425.1:c.344C>T NP_001357354.1:p.Thr115Ile
NM_001370426.1:c.344C>T NP_001357355.1:p.Thr115Ile
NM_001370427.1:c.344C>T NP_001357356.1:p.Thr115Ile
NM_003488.3:c.344C>T NP_003479.1:p.Thr115Ile
ENST00000314126.4:c.344C>T ENSP00000314075.3:p.Thr115Ile
ENST00000337714.7:c.344C>T ENSP00000337736.3:p.Thr115Ile
ENST00000481416.5:c.344C>T ENSP00000433212.1:p.Thr115Ile
ENST00000539273.5:c.344C>T ENSP00000443139.1:p.Thr115Ile
ENST00000571629.5:c.344C>T ENSP00000459968.1:p.Thr115Ile
ENST00000572156.1:c.344C>T ENSP00000459521.1:p.Thr115Ile
ENST00000572557.5:c.344C>T ENSP00000459895.1:p.Thr115Ile
ENST00000572814.1:c.344C>T ENSP00000458164.1:p.Thr115Ile
ENST00000575322.1:c.344C>T ENSP00000459808.1:p.Thr115Ile
ENST00000621116.4:c.344C>T ENSP00000478212.1:p.Thr115Ile
XM_005257707.1:c.344C>T XP_005257764.1:p.Thr115Ile
XM_005257707.3:c.344C>T XP_005257764.1:p.Thr115Ile
XM_005257709.1:c.344C>T XP_005257766.1:p.Thr115Ile
XM_005257709.3:c.344C>T XP_005257766.1:p.Thr115Ile
XM_011525318.1:c.344C>T XP_011523620.1:p.Thr115Ile
XM_017025189.2:c.344C>T XP_016880678.1:p.Thr115Ile
XM_017025190.2:c.344C>T XP_016880679.1:p.Thr115Ile
XM_017025191.2:c.344C>T XP_016880680.1:p.Thr115Ile
XM_024450960.1:c.344C>T XP_024306728.1:p.Thr115Ile
XR_001752655.2:n.523C>T