Canonical Allele Identifier: CA408877481

Gene: BPI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.38326418T>G , CM000682.2:g.38326418T>G	GRCh38
NC_000020.10:g.36954820T>G , CM000682.1:g.36954820T>G	GRCh37
NC_000020.9:g.36388234T>G	NCBI36
NG_047016.1:g.27269T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001725.3:c.1147T>G MANE Select	NP_001716.3:p.Phe383Val
ENST00000642449.2:c.1147T>G MANE Select	ENSP00000494528.2:p.Phe383Val
NM_001725.2:c.1159T>G	NP_001716.2:p.Phe387Val
ENST00000262865.8:c.1159T>G	ENSP00000262865.4:p.Phe387Val
ENST00000262865.9:c.1159T>G	ENSP00000262865.4:p.Phe387Val
ENST00000417318.3:c.556T>G	ENSP00000409833.2:p.Phe186Val
ENST00000489102.2:c.*336T>G	ENSP00000486976.1:n.*336T>G
XM_005260522.2:c.1159T>G	XP_005260579.1:p.Phe387Val
XM_011529012.1:c.556T>G	XP_011527314.1:p.Phe186Val
XM_024451972.1:c.565T>G	XP_024307740.1:p.Phe189Val
XR_430313.2:n.1188T>G