Canonical Allele Identifier: CA16604872
Gene: GLB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 393276
ClinVar RCV Id: RCV000422841
dbSNP Id: rs1057524868
MyVariant Identifiers: chr3:g.33055586G>A (hg19) chr3:g.33014094G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33014094G>A , CM000665.2:g.33014094G>A GRCh38
NC_000003.11:g.33055586G>A , CM000665.1:g.33055586G>A GRCh37
NC_000003.10:g.33030590G>A NCBI36
NG_009005.1:g.88109C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307363.10:c.1696C>T MANE Select ENSP00000306920.4:p.Pro566Ser
ENST00000307363.9:c.1696C>T ENSP00000306920.4:p.Pro566Ser
ENST00000307377.12:c.1303C>T ENSP00000305920.8:p.Pro435Ser
ENST00000399402.7:c.1606C>T ENSP00000382333.2:p.Pro536Ser
ENST00000461475.5:n.795C>T
NM_000404.2:c.1696C>T NP_000395.2:p.Pro566Ser
NM_000404.3:c.1696C>T NP_000395.2:p.Pro566Ser
NM_001079811.1:c.1606C>T NP_001073279.1:p.Pro536Ser
NM_001079811.2:c.1606C>T NP_001073279.1:p.Pro536Ser
NM_001135602.1:c.1303C>T NP_001129074.1:p.Pro435Ser
NM_001135602.2:c.1303C>T NP_001129074.1:p.Pro435Ser
NM_001317040.1:c.1840C>T NP_001303969.1:p.Pro614Ser
NM_000404.4:c.1696C>T MANE Select NP_000395.3:p.Pro566Ser
NM_001079811.3:c.1606C>T NP_001073279.2:p.Pro536Ser
NM_001135602.3:c.1303C>T NP_001129074.2:p.Pro435Ser
NM_001317040.2:c.1840C>T NP_001303969.2:p.Pro614Ser
NM_001393580.1:c.1696C>T NP_001380509.1:p.Pro566Ser
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