Canonical Allele Identifier: CA2655304738

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19723711-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19723711G>T , CM000684.2:g.19723711G>T	GRCh38
NC_000022.10:g.19711234G>T , CM000684.1:g.19711234G>T	GRCh37
NC_000022.9:g.18091234G>T	NCBI36
NG_007974.1:g.5169G>T , LRG_478:g.5169G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.10+132G>T (GP1BB) MANE Select	ENSP00000383382.2:n.10+132G>T
ENST00000366425.3:c.10+132G>T (GP1BB)	ENSP00000383382.2:n.10+132G>T
ENST00000431044.5:c.*1095+132G>T (SEPTIN5)	ENSP00000399685.1:n.*1095+132G>T
ENST00000455843.5:c.*1095+132G>T (SEPTIN5)	ENSP00000391731.1:n.*1095+132G>T
ENST00000470814.1:n.1982+132G>T (SEPTIN5)
NM_000407.4:c.10+132G>T , LRG_478t1:c.10+132G>T (GP1BB)	NP_000398.1:n.10+132G>T
NR_037611.1:n.3750+132G>T
NR_037612.1:n.2254+132G>T
NM_000407.5:c.10+132G>T (GP1BB) MANE Select	NP_000398.1:n.10+132G>T