Canonical Allele Identifier: CA322080078

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs918532079
• gnomAD v4: 22-19724311-G-C
• MyVariant Identifiers: chr22:g.19711834G>C (hg19) ; chr22:g.19724311G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724311G>C , CM000684.2:g.19724311G>C	GRCh38
NC_000022.10:g.19711834G>C , CM000684.1:g.19711834G>C	GRCh37
NC_000022.9:g.18091834G>C	NCBI36
NG_007974.1:g.5769G>C , LRG_478:g.5769G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.468G>C (GP1BB) MANE Select	ENSP00000383382.2:p.Ala156=
ENST00000366425.3:c.468G>C (GP1BB)	ENSP00000383382.2:p.Ala156=
ENST00000431044.5:c.*1553G>C (SEPTIN5)	ENSP00000399685.1:n.*1553G>C
NM_000407.4:c.468G>C , LRG_478t1:c.468G>C (GP1BB)	NP_000398.1:p.Ala156=
NR_037611.1:n.4208G>C
NR_037612.1:n.2712G>C
NM_000407.5:c.468G>C (GP1BB) MANE Select	NP_000398.1:p.Ala156=