Canonical Allele Identifier: CA410677666

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs2145796580
• gnomAD v4: 22-19724361-G-T
• MyVariant Identifiers: chr22:g.19711884G>T (hg19) ; chr22:g.19724361G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724361G>T , CM000684.2:g.19724361G>T	GRCh38
NC_000022.10:g.19711884G>T , CM000684.1:g.19711884G>T	GRCh37
NC_000022.9:g.18091884G>T	NCBI36
NG_007974.1:g.5819G>T , LRG_478:g.5819G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.518G>T (GP1BB) MANE Select	ENSP00000383382.2:p.Cys173Phe
ENST00000366425.3:c.518G>T (GP1BB)	ENSP00000383382.2:p.Cys173Phe
ENST00000431044.5:c.*1603G>T (SEPTIN5)	ENSP00000399685.1:n.*1603G>T
NM_000407.4:c.518G>T , LRG_478t1:c.518G>T (GP1BB)	NP_000398.1:p.Cys173Phe
NR_037611.1:n.4258G>T
NR_037612.1:n.2762G>T
NM_000407.5:c.518G>T (GP1BB) MANE Select	NP_000398.1:p.Cys173Phe