Canonical Allele Identifier: CA9852224

Gene: BPI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.38318419G>A , CM000682.2:g.38318419G>A	GRCh38
NC_000020.10:g.36946821G>A , CM000682.1:g.36946821G>A	GRCh37
NC_000020.9:g.36380235G>A	NCBI36
NG_047016.1:g.19270G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262865.9:c.619G>A	ENSP00000262865.4:p.Glu207Lys
ENST00000642449.2:c.607G>A MANE Select	ENSP00000494528.2:p.Glu203Lys
ENST00000262865.8:c.619G>A	ENSP00000262865.4:p.Glu207Lys
ENST00000417318.3:c.16G>A	ENSP00000409833.2:p.Glu6Lys
ENST00000489102.2:c.16G>A	ENSP00000486976.1:p.Glu6Lys
NM_001725.2:c.619G>A	NP_001716.2:p.Glu207Lys
XM_005260522.2:c.619G>A	XP_005260579.1:p.Glu207Lys
XM_011529012.1:c.16G>A	XP_011527314.1:p.Glu6Lys
XR_430313.2:n.648G>A
XM_024451972.1:c.25G>A	XP_024307740.1:p.Glu9Lys
NM_001725.3:c.607G>A MANE Select	NP_001716.3:p.Glu203Lys