Canonical Allele Identifier: CA410677679
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1159558795
gnomAD v2: 22-19711890-T-C
gnomAD v3: 22-19724367-T-C
gnomAD v4: 22-19724367-T-C
MyVariant Identifiers: chr22:g.19711890T>C (hg19) chr22:g.19724367T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724367T>C , CM000684.2:g.19724367T>C GRCh38
NC_000022.10:g.19711890T>C , CM000684.1:g.19711890T>C GRCh37
NC_000022.9:g.18091890T>C NCBI36
NG_007974.1:g.5825T>C , LRG_478:g.5825T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.524T>C (GP1BB) MANE Select ENSP00000383382.2:p.Leu175Pro
ENST00000366425.3:c.524T>C (GP1BB) ENSP00000383382.2:p.Leu175Pro
ENST00000431044.5:c.*1609T>C (SEPTIN5) ENSP00000399685.1:n.*1609T>C
NM_000407.4:c.524T>C , LRG_478t1:c.524T>C (GP1BB) NP_000398.1:p.Leu175Pro
NR_037611.1:n.4264T>C
NR_037612.1:n.2768T>C
NM_000407.5:c.524T>C (GP1BB) MANE Select NP_000398.1:p.Leu175Pro
Search 100 bp 5'
Search 100 bp 3'