Canonical Allele Identifier: CA410676248
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19711399A>C (hg19) chr22:g.19723876A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19723876A>C , CM000684.2:g.19723876A>C GRCh38
NC_000022.10:g.19711399A>C , CM000684.1:g.19711399A>C GRCh37
NC_000022.9:g.18091399A>C NCBI36
NG_007974.1:g.5334A>C , LRG_478:g.5334A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.33A>C (GP1BB) MANE Select ENSP00000383382.2:p.Leu11Phe
ENST00000366425.3:c.33A>C (GP1BB) ENSP00000383382.2:p.Leu11Phe
ENST00000431044.5:c.*1118A>C (SEPTIN5) ENSP00000399685.1:n.*1118A>C
ENST00000455843.5:c.*1118A>C (SEPTIN5) ENSP00000391731.1:n.*1118A>C
ENST00000470814.1:n.2005A>C (SEPTIN5)
NM_000407.4:c.33A>C , LRG_478t1:c.33A>C (GP1BB) NP_000398.1:p.Leu11Phe
NR_037611.1:n.3773A>C
NR_037612.1:n.2277A>C
NM_000407.5:c.33A>C (GP1BB) MANE Select NP_000398.1:p.Leu11Phe
Search 100 bp 5'
Search 100 bp 3'