Canonical Allele Identifier: CA2818394945

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724479C>G , CM000684.2:g.19724479C>G	GRCh38
NC_000022.10:g.19712002C>G , CM000684.1:g.19712002C>G	GRCh37
NC_000022.9:g.18092002C>G	NCBI36
NG_007974.1:g.5937C>G , LRG_478:g.5937C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.*15C>G (GP1BB) MANE Select	ENSP00000383382.2:n.*15C>G
ENST00000366425.3:c.*15C>G (GP1BB)	ENSP00000383382.2:n.*15C>G
ENST00000431044.5:c.*1721C>G (SEPTIN5)	ENSP00000399685.1:n.*1721C>G
NM_000407.4:c.*15C>G , LRG_478t1:c.*15C>G (GP1BB)	NP_000398.1:n.*15C>G
NR_037611.1:n.4376C>G
NR_037612.1:n.2880C>G
NM_000407.5:c.*15C>G (GP1BB) MANE Select	NP_000398.1:n.*15C>G