Canonical Allele Identifier: CA9852562

Gene: BPI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.38335654G>A , CM000682.2:g.38335654G>A	GRCh38
NC_000020.10:g.36964056G>A , CM000682.1:g.36964056G>A	GRCh37
NC_000020.9:g.36397470G>A	NCBI36
NG_047016.1:g.36505G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262865.9:c.1405G>A	ENSP00000262865.4:p.Val469Ile
ENST00000642449.2:c.1393G>A MANE Select	ENSP00000494528.2:p.Val465Ile
ENST00000262865.8:c.1405G>A	ENSP00000262865.4:p.Val469Ile
ENST00000417318.3:c.802G>A	ENSP00000409833.2:p.Val268Ile
ENST00000490381.1:n.182G>A
NM_001725.2:c.1405G>A	NP_001716.2:p.Val469Ile
XM_005260522.2:c.1294G>A	XP_005260579.1:p.Val432Ile
XM_011529012.1:c.802G>A	XP_011527314.1:p.Val268Ile
XR_430313.2:n.1391G>A
XM_024451972.1:c.700G>A	XP_024307740.1:p.Val234Ile
NM_001725.3:c.1393G>A MANE Select	NP_001716.3:p.Val465Ile