Canonical Allele Identifier: CA638352699

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs148651410
• gnomAD v2: 22-19711228-G-C
• gnomAD v4: 22-19723705-G-C
• MyVariant Identifiers: chr22:g.19711228G>C (hg19) ; chr22:g.19723705G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19723705G>C , CM000684.2:g.19723705G>C	GRCh38
NC_000022.10:g.19711228G>C , CM000684.1:g.19711228G>C	GRCh37
NC_000022.9:g.18091228G>C	NCBI36
NG_007974.1:g.5163G>C , LRG_478:g.5163G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.10+126G>C (GP1BB) MANE Select	ENSP00000383382.2:n.10+126G>C
ENST00000366425.3:c.10+126G>C (GP1BB)	ENSP00000383382.2:n.10+126G>C
ENST00000431044.5:c.*1095+126G>C (SEPTIN5)	ENSP00000399685.1:n.*1095+126G>C
ENST00000455843.5:c.*1095+126G>C (SEPTIN5)	ENSP00000391731.1:n.*1095+126G>C
ENST00000470814.1:n.1982+126G>C (SEPTIN5)
NM_000407.4:c.10+126G>C , LRG_478t1:c.10+126G>C (GP1BB)	NP_000398.1:n.10+126G>C
NR_037611.1:n.3750+126G>C
NR_037612.1:n.2254+126G>C
NM_000407.5:c.10+126G>C (GP1BB) MANE Select	NP_000398.1:n.10+126G>C