Canonical Allele Identifier: CA4686009
Community Standard Title: NM_004331.3(BNIP3L):c.538A>T (p.Ile180Phe)
Gene: BNIP3L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.26408303A>T , CM000670.2:g.26408303A>T GRCh38
NC_000008.10:g.26265819A>T , CM000670.1:g.26265819A>T GRCh37
NC_000008.9:g.26321736A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004331.3:c.538A>T MANE Select NP_004322.1:p.Ile180Phe
ENST00000380629.7:c.538A>T MANE Select ENSP00000370003.2:p.Ile180Phe
NM_001330491.1:c.418A>T NP_001317420.1:p.Ile140Phe
NM_001330491.2:c.418A>T NP_001317420.1:p.Ile140Phe
NM_004331.2:c.538A>T NP_004322.1:p.Ile180Phe
ENST00000380629.6:c.538A>T ENSP00000370003.2:p.Ile180Phe
ENST00000518611.5:c.418A>T ENSP00000429851.1:p.Ile140Phe
ENST00000520077.5:c.*98A>T ENSP00000428919.1:n.*98A>T
ENST00000520409.5:c.418A>T ENSP00000428597.1:p.Ile140Phe
ENST00000521254.1:n.273A>T
ENST00000523515.5:c.418A>T ENSP00000429698.1:p.Ile140Phe
ENST00000523949.5:c.472A>T ENSP00000429171.1:p.Ile158Phe
ENST00000620910.2:c.538A>T ENSP00000479522.1:p.Ile180Phe
XM_005273617.2:c.418A>T XP_005273674.1:p.Ile140Phe
XM_011544630.1:c.418A>T XP_011542932.1:p.Ile140Phe