Canonical Allele Identifier: CA2396008671

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724431G= , CM000684.2:g.19724431G=	GRCh38
NC_000022.10:g.19711954G= , CM000684.1:g.19711954G=	GRCh37
NC_000022.9:g.18091954G=	NCBI36
NG_007974.1:g.5889G= , LRG_478:g.5889G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.588G= (GP1BB) MANE Select	ENSP00000383382.2:p.Leu196=
ENST00000366425.3:c.588G= (GP1BB)	ENSP00000383382.2:p.Leu196=
ENST00000431044.5:c.*1673G= (SEPTIN5)	ENSP00000399685.1:n.*1673G=
NM_000407.4:c.588G= , LRG_478t1:c.588G= (GP1BB)	NP_000398.1:p.Leu196=
NR_037611.1:n.4328G=
NR_037612.1:n.2832G=
NM_000407.5:c.588G= (GP1BB) MANE Select	NP_000398.1:p.Leu196=