Canonical Allele Identifier: CA232364

Gene: GBP5

Linked Data

• ClinVar Variation Id: 92020
• ClinVar RCV Id: RCV000122577
• dbSNP Id: rs386352305
• MyVariant Identifiers: chr1:g.89726403G>A (hg19) ; chr1:g.89260720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.89260720G>A , CM000663.2:g.89260720G>A	GRCh38
NC_000001.10:g.89726403G>A , CM000663.1:g.89726403G>A	GRCh37
NC_000001.9:g.89498991G>A	NCBI36
NG_052816.1:g.17142C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370459.8:c.1745C>T MANE Select	ENSP00000359488.3:p.Pro582Leu
ENST00000370459.7:c.1745C>T	ENSP00000359488.3:p.Pro582Leu
ENST00000471171.1:n.301C>T
ENST00000481145.1:n.2342C>T
ENST00000490568.1:n.300C>T
NM_001134486.2:c.1745C>T	NP_001127958.1:p.Pro582Leu
NM_052942.3:c.1745C>T	NP_443174.1:p.Pro582Leu
NM_001134486.3:c.1745C>T	NP_001127958.1:p.Pro582Leu
NM_052942.4:c.1745C>T	NP_443174.1:p.Pro582Leu
NM_001134486.4:c.1745C>T	NP_001127958.1:p.Pro582Leu
NM_001391920.1:c.1460C>T	NP_001378849.1:p.Pro487Leu
NM_052942.5:c.1745C>T MANE Select	NP_443174.1:p.Pro582Leu