Canonical Allele Identifier: CA9852236

Gene: BPI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.38318446G>A , CM000682.2:g.38318446G>A	GRCh38
NC_000020.10:g.36946848G>A , CM000682.1:g.36946848G>A	GRCh37
NC_000020.9:g.36380262G>A	NCBI36
NG_047016.1:g.19297G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001725.3:c.634G>A MANE Select	NP_001716.3:p.Glu212Lys
ENST00000642449.2:c.634G>A MANE Select	ENSP00000494528.2:p.Glu212Lys
NM_001725.2:c.646G>A	NP_001716.2:p.Glu216Lys
ENST00000262865.8:c.646G>A	ENSP00000262865.4:p.Glu216Lys
ENST00000262865.9:c.646G>A	ENSP00000262865.4:p.Glu216Lys
ENST00000417318.3:c.43G>A	ENSP00000409833.2:p.Glu15Lys
ENST00000489102.2:c.43G>A	ENSP00000486976.1:p.Glu15Lys
XM_005260522.2:c.646G>A	XP_005260579.1:p.Glu216Lys
XM_011529012.1:c.43G>A	XP_011527314.1:p.Glu15Lys
XM_024451972.1:c.52G>A	XP_024307740.1:p.Glu18Lys
XR_430313.2:n.675G>A