Canonical Allele Identifier: CA513368904
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19711903G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724380G>T , CM000684.2:g.19724380G>T GRCh38
NC_000022.10:g.19711903G>T , CM000684.1:g.19711903G>T GRCh37
NC_000022.9:g.18091903G>T NCBI36
NG_007974.1:g.5838G>T , LRG_478:g.5838G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.537G>T (GP1BB) MANE Select ENSP00000383382.2:p.Arg179=
ENST00000366425.3:c.537G>T (GP1BB) ENSP00000383382.2:p.Arg179=
ENST00000431044.5:c.*1622G>T (SEPTIN5) ENSP00000399685.1:n.*1622G>T
NM_000407.4:c.537G>T , LRG_478t1:c.537G>T (GP1BB) NP_000398.1:p.Arg179=
NR_037611.1:n.4277G>T
NR_037612.1:n.2781G>T
NM_000407.5:c.537G>T (GP1BB) MANE Select NP_000398.1:p.Arg179=
Search 100 bp 5'
Search 100 bp 3'