Canonical Allele Identifier: CA2396008473

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724084C= , CM000684.2:g.19724084C=	GRCh38
NC_000022.10:g.19711607C= , CM000684.1:g.19711607C=	GRCh37
NC_000022.9:g.18091607C=	NCBI36
NG_007974.1:g.5542C= , LRG_478:g.5542C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.241C= (GP1BB) MANE Select	ENSP00000383382.2:p.Leu81=
ENST00000366425.3:c.241C= (GP1BB)	ENSP00000383382.2:p.Leu81=
ENST00000431044.5:c.*1326C= (SEPTIN5)	ENSP00000399685.1:n.*1326C=
ENST00000455843.5:c.*1326C= (SEPTIN5)	ENSP00000391731.1:n.*1326C=
ENST00000470814.1:n.2213C= (SEPTIN5)
NM_000407.4:c.241C= , LRG_478t1:c.241C= (GP1BB)	NP_000398.1:p.Leu81=
NR_037611.1:n.3981C=
NR_037612.1:n.2485C=
NM_000407.5:c.241C= (GP1BB) MANE Select	NP_000398.1:p.Leu81=