Canonical Allele Identifier: CA410676405

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19723952-G-T
• MyVariant Identifiers: chr22:g.19711475G>T (hg19) ; chr22:g.19723952G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19723952G>T , CM000684.2:g.19723952G>T	GRCh38
NC_000022.10:g.19711475G>T , CM000684.1:g.19711475G>T	GRCh37
NC_000022.9:g.18091475G>T	NCBI36
NG_007974.1:g.5410G>T , LRG_478:g.5410G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.109G>T (GP1BB) MANE Select	ENSP00000383382.2:p.Val37Leu
ENST00000366425.3:c.109G>T (GP1BB)	ENSP00000383382.2:p.Val37Leu
ENST00000431044.5:c.*1194G>T (SEPTIN5)	ENSP00000399685.1:n.*1194G>T
ENST00000455843.5:c.*1194G>T (SEPTIN5)	ENSP00000391731.1:n.*1194G>T
ENST00000470814.1:n.2081G>T (SEPTIN5)
NM_000407.4:c.109G>T , LRG_478t1:c.109G>T (GP1BB)	NP_000398.1:p.Val37Leu
NR_037611.1:n.3849G>T
NR_037612.1:n.2353G>T
NM_000407.5:c.109G>T (GP1BB) MANE Select	NP_000398.1:p.Val37Leu