Canonical Allele Identifier: CA2299410

Gene: GLB1

Linked Data

• dbSNP Id: rs777113164
• ExAC: 3:33059896 C / T
• gnomAD v2: 3-33059896-C-T
• gnomAD v3: 3-33018404-C-T
• gnomAD v4: 3-33018404-C-T
• MyVariant Identifiers: chr3:g.33059896C>T (hg19) ; chr3:g.33018404C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33018404C>T , CM000665.2:g.33018404C>T	GRCh38
NC_000003.11:g.33059896C>T , CM000665.1:g.33059896C>T	GRCh37
NC_000003.10:g.33034900C>T	NCBI36
NG_009005.1:g.83799G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1347+44G>A MANE Select	ENSP00000306920.4:n.1347+44G>A
ENST00000307363.9:c.1347+44G>A	ENSP00000306920.4:n.1347+44G>A
ENST00000307377.12:c.954+44G>A	ENSP00000305920.8:n.954+44G>A
ENST00000399402.7:c.1257+44G>A	ENSP00000382333.2:n.1257+44G>A
ENST00000461475.5:n.446+44G>A
ENST00000467571.5:n.384+44G>A
ENST00000497796.5:n.599+44G>A
NM_000404.2:c.1347+44G>A	NP_000395.2:n.1347+44G>A
NM_000404.3:c.1347+44G>A	NP_000395.2:n.1347+44G>A
NM_001079811.1:c.1257+44G>A	NP_001073279.1:n.1257+44G>A
NM_001079811.2:c.1257+44G>A	NP_001073279.1:n.1257+44G>A
NM_001135602.1:c.954+44G>A	NP_001129074.1:n.954+44G>A
NM_001135602.2:c.954+44G>A	NP_001129074.1:n.954+44G>A
NM_001317040.1:c.1491+44G>A	NP_001303969.1:n.1491+44G>A
NM_000404.4:c.1347+44G>A MANE Select	NP_000395.3:n.1347+44G>A
NM_001079811.3:c.1257+44G>A	NP_001073279.2:n.1257+44G>A
NM_001135602.3:c.954+44G>A	NP_001129074.2:n.954+44G>A
NM_001317040.2:c.1491+44G>A	NP_001303969.2:n.1491+44G>A
NM_001393580.1:c.1347+44G>A	NP_001380509.1:n.1347+44G>A