Canonical Allele Identifier: CA10102317

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs551140561
• ExAC: 22:19711493 G / C
• gnomAD v2: 22-19711493-G-C
• gnomAD v4: 22-19723970-G-C
• MyVariant Identifiers: chr22:g.19711493G>C (hg19) ; chr22:g.19723970G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19723970G>C , CM000684.2:g.19723970G>C	GRCh38
NC_000022.10:g.19711493G>C , CM000684.1:g.19711493G>C	GRCh37
NC_000022.9:g.18091493G>C	NCBI36
NG_007974.1:g.5428G>C , LRG_478:g.5428G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.127G>C (GP1BB) MANE Select	ENSP00000383382.2:p.Gly43Arg
ENST00000366425.3:c.127G>C (GP1BB)	ENSP00000383382.2:p.Gly43Arg
ENST00000431044.5:c.*1212G>C (SEPTIN5)	ENSP00000399685.1:n.*1212G>C
ENST00000455843.5:c.*1212G>C (SEPTIN5)	ENSP00000391731.1:n.*1212G>C
ENST00000470814.1:n.2099G>C (SEPTIN5)
NM_000407.4:c.127G>C , LRG_478t1:c.127G>C (GP1BB)	NP_000398.1:p.Gly43Arg
NR_037611.1:n.3867G>C
NR_037612.1:n.2371G>C
NM_000407.5:c.127G>C (GP1BB) MANE Select	NP_000398.1:p.Gly43Arg