Canonical Allele Identifier: CA10102314

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs779459067
• ExAC: 22:19711483 C / T
• gnomAD v2: 22-19711483-C-T
• gnomAD v4: 22-19723960-C-T
• MyVariant Identifiers: chr22:g.19711483C>T (hg19) ; chr22:g.19723960C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19723960C>T , CM000684.2:g.19723960C>T	GRCh38
NC_000022.10:g.19711483C>T , CM000684.1:g.19711483C>T	GRCh37
NC_000022.9:g.18091483C>T	NCBI36
NG_007974.1:g.5418C>T , LRG_478:g.5418C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.117C>T (GP1BB) MANE Select	ENSP00000383382.2:p.Cys39=
ENST00000366425.3:c.117C>T (GP1BB)	ENSP00000383382.2:p.Cys39=
ENST00000431044.5:c.*1202C>T (SEPTIN5)	ENSP00000399685.1:n.*1202C>T
ENST00000455843.5:c.*1202C>T (SEPTIN5)	ENSP00000391731.1:n.*1202C>T
ENST00000470814.1:n.2089C>T (SEPTIN5)
NM_000407.4:c.117C>T , LRG_478t1:c.117C>T (GP1BB)	NP_000398.1:p.Cys39=
NR_037611.1:n.3857C>T
NR_037612.1:n.2361C>T
NM_000407.5:c.117C>T (GP1BB) MANE Select	NP_000398.1:p.Cys39=