Canonical Allele Identifier: CA410677441
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 627304
ClinVar RCV Id: RCV000852115
dbSNP Id: rs1601248889
gnomAD v4: 22-19724253-T-C
MyVariant Identifiers: chr22:g.19711776T>C (hg19) chr22:g.19724253T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724253T>C , CM000684.2:g.19724253T>C GRCh38
NC_000022.10:g.19711776T>C , CM000684.1:g.19711776T>C GRCh37
NC_000022.9:g.18091776T>C NCBI36
NG_007974.1:g.5711T>C , LRG_478:g.5711T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366425.4:c.410T>C (GP1BB) MANE Select ENSP00000383382.2:p.Leu137Pro
ENST00000366425.3:c.410T>C (GP1BB) ENSP00000383382.2:p.Leu137Pro
ENST00000431044.5:c.*1495T>C (SEPTIN5) ENSP00000399685.1:n.*1495T>C
NM_000407.4:c.410T>C , LRG_478t1:c.410T>C (GP1BB) NP_000398.1:p.Leu137Pro
NR_037611.1:n.4150T>C
NR_037612.1:n.2654T>C
NM_000407.5:c.410T>C (GP1BB) MANE Select NP_000398.1:p.Leu137Pro
Search 100 bp 5'
Search 100 bp 3'