Canonical Allele Identifier: CA2396008319

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs1936106894
• gnomAD v4: 22-19723790-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19723790G>C , CM000684.2:g.19723790G>C	GRCh38
NC_000022.10:g.19711313G>C , CM000684.1:g.19711313G>C	GRCh37
NC_000022.9:g.18091313G>C	NCBI36
NG_007974.1:g.5248G>C , LRG_478:g.5248G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.11-64G>C (GP1BB) MANE Select	ENSP00000383382.2:n.11-64G>C
ENST00000366425.3:c.11-64G>C (GP1BB)	ENSP00000383382.2:n.11-64G>C
ENST00000431044.5:c.*1096-64G>C (SEPTIN5)	ENSP00000399685.1:n.*1096-64G>C
ENST00000455843.5:c.*1096-64G>C (SEPTIN5)	ENSP00000391731.1:n.*1096-64G>C
ENST00000470814.1:n.1983-64G>C (SEPTIN5)
NM_000407.4:c.11-64G>C , LRG_478t1:c.11-64G>C (GP1BB)	NP_000398.1:n.11-64G>C
NR_037611.1:n.3751-64G>C
NR_037612.1:n.2255-64G>C
NM_000407.5:c.11-64G>C (GP1BB) MANE Select	NP_000398.1:n.11-64G>C