Canonical Allele Identifier: CA2655305597

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19724478-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724478G>T , CM000684.2:g.19724478G>T	GRCh38
NC_000022.10:g.19712001G>T , CM000684.1:g.19712001G>T	GRCh37
NC_000022.9:g.18092001G>T	NCBI36
NG_007974.1:g.5936G>T , LRG_478:g.5936G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.*14G>T (GP1BB) MANE Select	ENSP00000383382.2:n.*14G>T
ENST00000366425.3:c.*14G>T (GP1BB)	ENSP00000383382.2:n.*14G>T
ENST00000431044.5:c.*1720G>T (SEPTIN5)	ENSP00000399685.1:n.*1720G>T
NM_000407.4:c.*14G>T , LRG_478t1:c.*14G>T (GP1BB)	NP_000398.1:n.*14G>T
NR_037611.1:n.4375G>T
NR_037612.1:n.2879G>T
NM_000407.5:c.*14G>T (GP1BB) MANE Select	NP_000398.1:n.*14G>T