Canonical Allele Identifier: CA513368933

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs1601249108
• MyVariant Identifiers: chr22:g.19711918T>C (hg19)

Genomic Alleles

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

Transcript Alleles

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