Canonical Allele Identifier: CA513368893
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1403083728
gnomAD v2: 22-19711895-A-C
gnomAD v3: 22-19724372-A-C
gnomAD v4: 22-19724372-A-C
MyVariant Identifiers: chr22:g.19711895A>C (hg19) chr22:g.19724372A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724372A>C , CM000684.2:g.19724372A>C GRCh38
NC_000022.10:g.19711895A>C , CM000684.1:g.19711895A>C GRCh37
NC_000022.9:g.18091895A>C NCBI36
NG_007974.1:g.5830A>C , LRG_478:g.5830A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.529A>C (GP1BB) MANE Select ENSP00000383382.2:p.Arg177=
ENST00000366425.3:c.529A>C (GP1BB) ENSP00000383382.2:p.Arg177=
ENST00000431044.5:c.*1614A>C (SEPTIN5) ENSP00000399685.1:n.*1614A>C
NM_000407.4:c.529A>C , LRG_478t1:c.529A>C (GP1BB) NP_000398.1:p.Arg177=
NR_037611.1:n.4269A>C
NR_037612.1:n.2773A>C
NM_000407.5:c.529A>C (GP1BB) MANE Select NP_000398.1:p.Arg177=
Search 100 bp 5'
Search 100 bp 3'