Canonical Allele Identifier: CA513687038
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1245496865
gnomAD v2: 22-19711835-C-T
gnomAD v4: 22-19724312-C-T
MyVariant Identifiers: chr22:g.19711835C>T (hg19) chr22:g.19724312C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724312C>T , CM000684.2:g.19724312C>T GRCh38
NC_000022.10:g.19711835C>T , CM000684.1:g.19711835C>T GRCh37
NC_000022.9:g.18091835C>T NCBI36
NG_007974.1:g.5770C>T , LRG_478:g.5770C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.469C>T (GP1BB) MANE Select ENSP00000383382.2:p.Leu157=
ENST00000366425.3:c.469C>T (GP1BB) ENSP00000383382.2:p.Leu157=
ENST00000431044.5:c.*1554C>T (SEPTIN5) ENSP00000399685.1:n.*1554C>T
NM_000407.4:c.469C>T , LRG_478t1:c.469C>T (GP1BB) NP_000398.1:p.Leu157=
NR_037611.1:n.4209C>T
NR_037612.1:n.2713C>T
NM_000407.5:c.469C>T (GP1BB) MANE Select NP_000398.1:p.Leu157=
Search 100 bp 5'
Search 100 bp 3'