Canonical Allele Identifier: CA410677297

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs1936118184
• gnomAD v3: 22-19724213-C-G
• gnomAD v4: 22-19724213-C-G
• MyVariant Identifiers: chr22:g.19711736C>G (hg19) ; chr22:g.19724213C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724213C>G , CM000684.2:g.19724213C>G	GRCh38
NC_000022.10:g.19711736C>G , CM000684.1:g.19711736C>G	GRCh37
NC_000022.9:g.18091736C>G	NCBI36
NG_007974.1:g.5671C>G , LRG_478:g.5671C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.370C>G (GP1BB) MANE Select	ENSP00000383382.2:p.Leu124Val
ENST00000366425.3:c.370C>G (GP1BB)	ENSP00000383382.2:p.Leu124Val
ENST00000431044.5:c.*1455C>G (SEPTIN5)	ENSP00000399685.1:n.*1455C>G
ENST00000455843.5:c.*1455C>G (SEPTIN5)	ENSP00000391731.1:n.*1455C>G
ENST00000470814.1:n.2342C>G (SEPTIN5)
NM_000407.4:c.370C>G , LRG_478t1:c.370C>G (GP1BB)	NP_000398.1:p.Leu124Val
NR_037611.1:n.4110C>G
NR_037612.1:n.2614C>G
NM_000407.5:c.370C>G (GP1BB) MANE Select	NP_000398.1:p.Leu124Val