Canonical Allele Identifier: CA2396008489

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724122C= , CM000684.2:g.19724122C=	GRCh38
NC_000022.10:g.19711645C= , CM000684.1:g.19711645C=	GRCh37
NC_000022.9:g.18091645C=	NCBI36
NG_007974.1:g.5580C= , LRG_478:g.5580C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.279C= (GP1BB) MANE Select	ENSP00000383382.2:p.Cys93=
ENST00000366425.3:c.279C= (GP1BB)	ENSP00000383382.2:p.Cys93=
ENST00000431044.5:c.*1364C= (SEPTIN5)	ENSP00000399685.1:n.*1364C=
ENST00000455843.5:c.*1364C= (SEPTIN5)	ENSP00000391731.1:n.*1364C=
ENST00000470814.1:n.2251C= (SEPTIN5)
NM_000407.4:c.279C= , LRG_478t1:c.279C= (GP1BB)	NP_000398.1:p.Cys93=
NR_037611.1:n.4019C=
NR_037612.1:n.2523C=
NM_000407.5:c.279C= (GP1BB) MANE Select	NP_000398.1:p.Cys93=