Canonical Allele Identifier: CA2396008660

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724418T= , CM000684.2:g.19724418T=	GRCh38
NC_000022.10:g.19711941T= , CM000684.1:g.19711941T=	GRCh37
NC_000022.9:g.18091941T=	NCBI36
NG_007974.1:g.5876T= , LRG_478:g.5876T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.575T= (GP1BB) MANE Select	ENSP00000383382.2:p.Leu192=
ENST00000366425.3:c.575T= (GP1BB)	ENSP00000383382.2:p.Leu192=
ENST00000431044.5:c.*1660T= (SEPTIN5)	ENSP00000399685.1:n.*1660T=
NM_000407.4:c.575T= , LRG_478t1:c.575T= (GP1BB)	NP_000398.1:p.Leu192=
NR_037611.1:n.4315T=
NR_037612.1:n.2819T=
NM_000407.5:c.575T= (GP1BB) MANE Select	NP_000398.1:p.Leu192=