Canonical Allele Identifier: CA5964191
Community Standard Title: NM_001387011.1(AMBRA1):c.2920A>G (p.Met974Val)
Gene: AMBRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46433530T>C , CM000673.2:g.46433530T>C GRCh38
NC_000011.9:g.46455080T>C , CM000673.1:g.46455080T>C GRCh37
NC_000011.8:g.46411656T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001387011.1:c.2920A>G MANE Select NP_001373940.1:p.Met974Val
ENST00000683756.1:c.2920A>G MANE Select ENSP00000508322.1:p.Met974Val
NM_001267782.1:c.2929A>G NP_001254711.1:p.Met977Val
NM_001267782.2:c.2929A>G NP_001254711.1:p.Met977Val
NM_001267783.1:c.2563A>G NP_001254712.1:p.Met855Val
NM_001267783.2:c.2563A>G NP_001254712.1:p.Met855Val
NM_001300731.1:c.2740A>G NP_001287660.1:p.Met914Val
NM_001300731.2:c.2740A>G NP_001287660.1:p.Met914Val
NM_001367468.1:c.2920A>G NP_001354397.1:p.Met974Val
NM_001367469.1:c.2383A>G NP_001354398.1:p.Met795Val
NM_001367470.1:c.2113A>G NP_001354399.1:p.Met705Val
NM_001367471.1:c.2650A>G NP_001354400.1:p.Met884Val
NM_017749.3:c.2650A>G NP_060219.2:p.Met884Val
NR_160027.1:n.2693A>G
ENST00000314845.7:c.2650A>G ENSP00000318313.3:p.Met884Val
ENST00000458649.6:c.2920A>G ENSP00000415327.2:p.Met974Val
ENST00000528950.1:c.2833A>G ENSP00000433945.1:p.Met945Val
ENST00000533727.5:c.2563A>G ENSP00000433372.1:p.Met855Val
ENST00000534300.5:c.2740A>G ENSP00000431926.1:p.Met914Val
XM_005253009.2:c.2920A>G XP_005253066.1:p.Met974Val
XM_005253009.4:c.2920A>G XP_005253066.1:p.Met974Val
XM_005253011.2:c.2833A>G XP_005253068.1:p.Met945Val
XM_005253011.4:c.2833A>G XP_005253068.1:p.Met945Val
XM_005253014.2:c.2650A>G XP_005253071.1:p.Met884Val
XM_005253014.4:c.2650A>G XP_005253071.1:p.Met884Val
XM_006718259.1:c.2920A>G XP_006718322.1:p.Met974Val
XM_006718259.2:c.2920A>G XP_006718322.1:p.Met974Val
XM_006718260.1:c.2383A>G XP_006718323.1:p.Met795Val
XM_006718260.3:c.2383A>G XP_006718323.1:p.Met795Val
XM_011520214.1:c.2650A>G XP_011518516.1:p.Met884Val
XM_024448605.1:c.2920A>G XP_024304373.1:p.Met974Val
XM_024448606.1:c.2650A>G XP_024304374.1:p.Met884Val
XR_002957153.1:n.2899+1319A>G
XR_930878.1:n.2909+1319A>G