Canonical Allele Identifier: CA638352734

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs1207283915
• gnomAD v2: 22-19711291-T-G
• gnomAD v3: 22-19723768-T-G
• gnomAD v4: 22-19723768-T-G
• MyVariant Identifiers: chr22:g.19711291T>G (hg19) ; chr22:g.19723768T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19723768T>G , CM000684.2:g.19723768T>G	GRCh38
NC_000022.10:g.19711291T>G , CM000684.1:g.19711291T>G	GRCh37
NC_000022.9:g.18091291T>G	NCBI36
NG_007974.1:g.5226T>G , LRG_478:g.5226T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.11-86T>G (GP1BB) MANE Select	ENSP00000383382.2:n.11-86T>G
ENST00000366425.3:c.11-86T>G (GP1BB)	ENSP00000383382.2:n.11-86T>G
ENST00000431044.5:c.*1096-86T>G (SEPTIN5)	ENSP00000399685.1:n.*1096-86T>G
ENST00000455843.5:c.*1096-86T>G (SEPTIN5)	ENSP00000391731.1:n.*1096-86T>G
ENST00000470814.1:n.1983-86T>G (SEPTIN5)
NM_000407.4:c.11-86T>G , LRG_478t1:c.11-86T>G (GP1BB)	NP_000398.1:n.11-86T>G
NR_037611.1:n.3751-86T>G
NR_037612.1:n.2255-86T>G
NM_000407.5:c.11-86T>G (GP1BB) MANE Select	NP_000398.1:n.11-86T>G