Canonical Allele Identifier: CA408870099

Gene: BPI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001725.3:c.634G>T MANE Select	NP_001716.3:p.Glu212Ter
ENST00000642449.2:c.634G>T MANE Select	ENSP00000494528.2:p.Glu212Ter
NM_001725.2:c.646G>T	NP_001716.2:p.Glu216Ter
ENST00000262865.8:c.646G>T	ENSP00000262865.4:p.Glu216Ter
ENST00000262865.9:c.646G>T	ENSP00000262865.4:p.Glu216Ter
ENST00000417318.3:c.43G>T	ENSP00000409833.2:p.Glu15Ter
ENST00000489102.2:c.43G>T	ENSP00000486976.1:p.Glu15Ter
XM_005260522.2:c.646G>T	XP_005260579.1:p.Glu216Ter
XM_011529012.1:c.43G>T	XP_011527314.1:p.Glu15Ter
XM_024451972.1:c.52G>T	XP_024307740.1:p.Glu18Ter
XR_430313.2:n.675G>T