Canonical Allele Identifier: CA2396008700

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs1936126654

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724473C>G , CM000684.2:g.19724473C>G	GRCh38
NC_000022.10:g.19711996C>G , CM000684.1:g.19711996C>G	GRCh37
NC_000022.9:g.18091996C>G	NCBI36
NG_007974.1:g.5931C>G , LRG_478:g.5931C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.*9C>G (GP1BB) MANE Select	ENSP00000383382.2:n.*9C>G
ENST00000366425.3:c.*9C>G (GP1BB)	ENSP00000383382.2:n.*9C>G
ENST00000431044.5:c.*1715C>G (SEPTIN5)	ENSP00000399685.1:n.*1715C>G
NM_000407.4:c.*9C>G , LRG_478t1:c.*9C>G (GP1BB)	NP_000398.1:n.*9C>G
NR_037611.1:n.4370C>G
NR_037612.1:n.2874C>G
NM_000407.5:c.*9C>G (GP1BB) MANE Select	NP_000398.1:n.*9C>G