Canonical Allele Identifier: CA2299335

Gene: GLB1

Linked Data

• ClinVar Variation Id: 426185
• ClinVar RCV Id: RCV000490151 ; RCV000666099 ; RCV000811767 ; RCV002286741
• dbSNP Id: rs776327443
• ExAC: 3:33055636 G / A
• gnomAD v2: 3-33055636-G-A
• gnomAD v3: 3-33014144-G-A
• gnomAD v4: 3-33014144-G-A
• MyVariant Identifiers: chr3:g.33055636G>A (hg19) ; chr3:g.33014144G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33014144G>A , CM000665.2:g.33014144G>A	GRCh38
NC_000003.11:g.33055636G>A , CM000665.1:g.33055636G>A	GRCh37
NC_000003.10:g.33030640G>A	NCBI36
NG_009005.1:g.88059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1646C>T MANE Select	ENSP00000306920.4:p.Pro549Leu
ENST00000307363.9:c.1646C>T	ENSP00000306920.4:p.Pro549Leu
ENST00000307377.12:c.1253C>T	ENSP00000305920.8:p.Pro418Leu
ENST00000399402.7:c.1556C>T	ENSP00000382333.2:p.Pro519Leu
ENST00000461475.5:n.745C>T
ENST00000497796.5:n.898C>T
NM_000404.2:c.1646C>T	NP_000395.2:p.Pro549Leu
NM_000404.3:c.1646C>T	NP_000395.2:p.Pro549Leu
NM_001079811.1:c.1556C>T	NP_001073279.1:p.Pro519Leu
NM_001079811.2:c.1556C>T	NP_001073279.1:p.Pro519Leu
NM_001135602.1:c.1253C>T	NP_001129074.1:p.Pro418Leu
NM_001135602.2:c.1253C>T	NP_001129074.1:p.Pro418Leu
NM_001317040.1:c.1790C>T	NP_001303969.1:p.Pro597Leu
NM_000404.4:c.1646C>T MANE Select	NP_000395.3:p.Pro549Leu
NM_001079811.3:c.1556C>T	NP_001073279.2:p.Pro519Leu
NM_001135602.3:c.1253C>T	NP_001129074.2:p.Pro418Leu
NM_001317040.2:c.1790C>T	NP_001303969.2:p.Pro597Leu
NM_001393580.1:c.1646C>T	NP_001380509.1:p.Pro549Leu