Canonical Allele Identifier: CA542171613

Gene: GLB1

Linked Data

• dbSNP Id: rs1177465598
• gnomAD v2: 3-33059889-T-G
• gnomAD v3: 3-33018397-T-G
• gnomAD v4: 3-33018397-T-G
• MyVariant Identifiers: chr3:g.33059889T>G (hg19) ; chr3:g.33018397T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33018397T>G , CM000665.2:g.33018397T>G	GRCh38
NC_000003.11:g.33059889T>G , CM000665.1:g.33059889T>G	GRCh37
NC_000003.10:g.33034893T>G	NCBI36
NG_009005.1:g.83806A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1347+51A>C MANE Select	ENSP00000306920.4:n.1347+51A>C
ENST00000307363.9:c.1347+51A>C	ENSP00000306920.4:n.1347+51A>C
ENST00000307377.12:c.954+51A>C	ENSP00000305920.8:n.954+51A>C
ENST00000399402.7:c.1257+51A>C	ENSP00000382333.2:n.1257+51A>C
ENST00000461475.5:n.446+51A>C
ENST00000467571.5:n.384+51A>C
ENST00000497796.5:n.599+51A>C
NM_000404.2:c.1347+51A>C	NP_000395.2:n.1347+51A>C
NM_000404.3:c.1347+51A>C	NP_000395.2:n.1347+51A>C
NM_001079811.1:c.1257+51A>C	NP_001073279.1:n.1257+51A>C
NM_001079811.2:c.1257+51A>C	NP_001073279.1:n.1257+51A>C
NM_001135602.1:c.954+51A>C	NP_001129074.1:n.954+51A>C
NM_001135602.2:c.954+51A>C	NP_001129074.1:n.954+51A>C
NM_001317040.1:c.1491+51A>C	NP_001303969.1:n.1491+51A>C
NM_000404.4:c.1347+51A>C MANE Select	NP_000395.3:n.1347+51A>C
NM_001079811.3:c.1257+51A>C	NP_001073279.2:n.1257+51A>C
NM_001135602.3:c.954+51A>C	NP_001129074.2:n.954+51A>C
NM_001317040.2:c.1491+51A>C	NP_001303969.2:n.1491+51A>C
NM_001393580.1:c.1347+51A>C	NP_001380509.1:n.1347+51A>C