Canonical Allele Identifier: CA9852408

Gene: BPI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.38326345C>T , CM000682.2:g.38326345C>T	GRCh38
NC_000020.10:g.36954747C>T , CM000682.1:g.36954747C>T	GRCh37
NC_000020.9:g.36388161C>T	NCBI36
NG_047016.1:g.27196C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262865.9:c.1086C>T	ENSP00000262865.4:p.Thr362=
ENST00000642449.2:c.1074C>T MANE Select	ENSP00000494528.2:p.Thr358=
ENST00000262865.8:c.1086C>T	ENSP00000262865.4:p.Thr362=
ENST00000417318.3:c.483C>T	ENSP00000409833.2:p.Thr161=
ENST00000489102.2:c.*263C>T	ENSP00000486976.1:n.*263C>T
NM_001725.2:c.1086C>T	NP_001716.2:p.Thr362=
XM_005260522.2:c.1086C>T	XP_005260579.1:p.Thr362=
XM_011529012.1:c.483C>T	XP_011527314.1:p.Thr161=
XR_430313.2:n.1115C>T
XM_024451972.1:c.492C>T	XP_024307740.1:p.Thr164=
NM_001725.3:c.1074C>T MANE Select	NP_001716.3:p.Thr358=