Canonical Allele Identifier: CA410676482
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19711505G>C (hg19) chr22:g.19723982G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19723982G>C , CM000684.2:g.19723982G>C GRCh38
NC_000022.10:g.19711505G>C , CM000684.1:g.19711505G>C GRCh37
NC_000022.9:g.18091505G>C NCBI36
NG_007974.1:g.5440G>C , LRG_478:g.5440G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.139G>C (GP1BB) MANE Select ENSP00000383382.2:p.Ala47Pro
ENST00000366425.3:c.139G>C (GP1BB) ENSP00000383382.2:p.Ala47Pro
ENST00000431044.5:c.*1224G>C (SEPTIN5) ENSP00000399685.1:n.*1224G>C
ENST00000455843.5:c.*1224G>C (SEPTIN5) ENSP00000391731.1:n.*1224G>C
ENST00000470814.1:n.2111G>C (SEPTIN5)
NM_000407.4:c.139G>C , LRG_478t1:c.139G>C (GP1BB) NP_000398.1:p.Ala47Pro
NR_037611.1:n.3879G>C
NR_037612.1:n.2383G>C
NM_000407.5:c.139G>C (GP1BB) MANE Select NP_000398.1:p.Ala47Pro
Search 100 bp 5'
Search 100 bp 3'