Canonical Allele Identifier: CA513368932

Gene: GP1BB SEPTIN5

Linked Data

• MyVariant Identifiers: chr22:g.19711918T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724395T>A , CM000684.2:g.19724395T>A	GRCh38
NC_000022.10:g.19711918T>A , CM000684.1:g.19711918T>A	GRCh37
NC_000022.9:g.18091918T>A	NCBI36
NG_007974.1:g.5853T>A , LRG_478:g.5853T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.552T>A (GP1BB) MANE Select	ENSP00000383382.2:p.Ala184=
ENST00000366425.3:c.552T>A (GP1BB)	ENSP00000383382.2:p.Ala184=
ENST00000431044.5:c.*1637T>A (SEPTIN5)	ENSP00000399685.1:n.*1637T>A
NM_000407.4:c.552T>A , LRG_478t1:c.552T>A (GP1BB)	NP_000398.1:p.Ala184=
NR_037611.1:n.4292T>A
NR_037612.1:n.2796T>A
NM_000407.5:c.552T>A (GP1BB) MANE Select	NP_000398.1:p.Ala184=