Canonical Allele Identifier: CA10102350
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs753093914
ExAC: 22:19711976 G / T
gnomAD v2: 22-19711976-G-T
gnomAD v3: 22-19724453-G-T
gnomAD v4: 22-19724453-G-T
MyVariant Identifiers: chr22:g.19711976G>T (hg19) chr22:g.19724453G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724453G>T , CM000684.2:g.19724453G>T GRCh38
NC_000022.10:g.19711976G>T , CM000684.1:g.19711976G>T GRCh37
NC_000022.9:g.18091976G>T NCBI36
NG_007974.1:g.5911G>T , LRG_478:g.5911G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.610G>T (GP1BB) MANE Select ENSP00000383382.2:p.Asp204Tyr
ENST00000366425.3:c.610G>T (GP1BB) ENSP00000383382.2:p.Asp204Tyr
ENST00000431044.5:c.*1695G>T (SEPTIN5) ENSP00000399685.1:n.*1695G>T
NM_000407.4:c.610G>T , LRG_478t1:c.610G>T (GP1BB) NP_000398.1:p.Asp204Tyr
NR_037611.1:n.4350G>T
NR_037612.1:n.2854G>T
NM_000407.5:c.610G>T (GP1BB) MANE Select NP_000398.1:p.Asp204Tyr
Search 100 bp 5'
Search 100 bp 3'