Canonical Allele Identifier: CA9852245

Gene: BPI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.38318483G>T , CM000682.2:g.38318483G>T	GRCh38
NC_000020.10:g.36946885G>T , CM000682.1:g.36946885G>T	GRCh37
NC_000020.9:g.36380299G>T	NCBI36
NG_047016.1:g.19334G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001725.3:c.664+7G>T MANE Select	NP_001716.3:n.664+7G>T
ENST00000642449.2:c.664+7G>T MANE Select	ENSP00000494528.2:n.664+7G>T
NM_001725.2:c.676+7G>T	NP_001716.2:n.676+7G>T
ENST00000262865.8:c.676+7G>T	ENSP00000262865.4:n.676+7G>T
ENST00000262865.9:c.676+7G>T	ENSP00000262865.4:n.676+7G>T
ENST00000417318.3:c.73+7G>T	ENSP00000409833.2:n.73+7G>T
ENST00000489102.2:c.73+7G>T	ENSP00000486976.1:n.73+7G>T
XM_005260522.2:c.676+7G>T	XP_005260579.1:n.676+7G>T
XM_011529012.1:c.73+7G>T	XP_011527314.1:n.73+7G>T
XM_024451972.1:c.82+7G>T	XP_024307740.1:n.82+7G>T
XR_430313.2:n.705+7G>T