Canonical Allele Identifier: CA513686979

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs1425841366
• gnomAD v4: 22-19724237-C-T
• MyVariant Identifiers: chr22:g.19711760C>T (hg19) ; chr22:g.19724237C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724237C>T , CM000684.2:g.19724237C>T	GRCh38
NC_000022.10:g.19711760C>T , CM000684.1:g.19711760C>T	GRCh37
NC_000022.9:g.18091760C>T	NCBI36
NG_007974.1:g.5695C>T , LRG_478:g.5695C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.394C>T (GP1BB) MANE Select	ENSP00000383382.2:p.Leu132=
ENST00000366425.3:c.394C>T (GP1BB)	ENSP00000383382.2:p.Leu132=
ENST00000431044.5:c.*1479C>T (SEPTIN5)	ENSP00000399685.1:n.*1479C>T
NM_000407.4:c.394C>T , LRG_478t1:c.394C>T (GP1BB)	NP_000398.1:p.Leu132=
NR_037611.1:n.4134C>T
NR_037612.1:n.2638C>T
NM_000407.5:c.394C>T (GP1BB) MANE Select	NP_000398.1:p.Leu132=