Canonical Allele Identifier: CA410677770
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19711941T>A (hg19) chr22:g.19724418T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724418T>A , CM000684.2:g.19724418T>A GRCh38
NC_000022.10:g.19711941T>A , CM000684.1:g.19711941T>A GRCh37
NC_000022.9:g.18091941T>A NCBI36
NG_007974.1:g.5876T>A , LRG_478:g.5876T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.575T>A (GP1BB) MANE Select ENSP00000383382.2:p.Leu192Gln
ENST00000366425.3:c.575T>A (GP1BB) ENSP00000383382.2:p.Leu192Gln
ENST00000431044.5:c.*1660T>A (SEPTIN5) ENSP00000399685.1:n.*1660T>A
NM_000407.4:c.575T>A , LRG_478t1:c.575T>A (GP1BB) NP_000398.1:p.Leu192Gln
NR_037611.1:n.4315T>A
NR_037612.1:n.2819T>A
NM_000407.5:c.575T>A (GP1BB) MANE Select NP_000398.1:p.Leu192Gln
Search 100 bp 5'
Search 100 bp 3'