Canonical Allele Identifier: CA2396008673

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724433T= , CM000684.2:g.19724433T=	GRCh38
NC_000022.10:g.19711956T= , CM000684.1:g.19711956T=	GRCh37
NC_000022.9:g.18091956T=	NCBI36
NG_007974.1:g.5891T= , LRG_478:g.5891T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.590T= (GP1BB) MANE Select	ENSP00000383382.2:p.Val197=
ENST00000366425.3:c.590T= (GP1BB)	ENSP00000383382.2:p.Val197=
ENST00000431044.5:c.*1675T= (SEPTIN5)	ENSP00000399685.1:n.*1675T=
NM_000407.4:c.590T= , LRG_478t1:c.590T= (GP1BB)	NP_000398.1:p.Val197=
NR_037611.1:n.4330T=
NR_037612.1:n.2834T=
NM_000407.5:c.590T= (GP1BB) MANE Select	NP_000398.1:p.Val197=