Canonical Allele Identifier: CA2299464

Gene: GLB1

Linked Data

• dbSNP Id: rs571161854
• ExAC: 3:33063037 G / A
• gnomAD v2: 3-33063037-G-A
• gnomAD v4: 3-33021545-G-A
• MyVariant Identifiers: chr3:g.33063037G>A (hg19) ; chr3:g.33021545G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021545G>A , CM000665.2:g.33021545G>A	GRCh38
NC_000003.11:g.33063037G>A , CM000665.1:g.33063037G>A	GRCh37
NC_000003.10:g.33038041G>A	NCBI36
NG_009005.1:g.80658C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1233+21C>T MANE Select	ENSP00000306920.4:n.1233+21C>T
ENST00000307363.9:c.1233+21C>T	ENSP00000306920.4:n.1233+21C>T
ENST00000307377.12:c.840+21C>T	ENSP00000305920.8:n.840+21C>T
ENST00000399402.7:c.1143+21C>T	ENSP00000382333.2:n.1143+21C>T
ENST00000461475.5:n.332+21C>T
ENST00000467571.5:n.270+21C>T
ENST00000473477.1:n.286C>T
ENST00000497796.5:n.485+21C>T
NM_000404.2:c.1233+21C>T	NP_000395.2:n.1233+21C>T
NM_000404.3:c.1233+21C>T	NP_000395.2:n.1233+21C>T
NM_001079811.1:c.1143+21C>T	NP_001073279.1:n.1143+21C>T
NM_001079811.2:c.1143+21C>T	NP_001073279.1:n.1143+21C>T
NM_001135602.1:c.840+21C>T	NP_001129074.1:n.840+21C>T
NM_001135602.2:c.840+21C>T	NP_001129074.1:n.840+21C>T
NM_001317040.1:c.1377+21C>T	NP_001303969.1:n.1377+21C>T
XR_001740634.1:n.1543-643G>A
NM_000404.4:c.1233+21C>T MANE Select	NP_000395.3:n.1233+21C>T
NM_001079811.3:c.1143+21C>T	NP_001073279.2:n.1143+21C>T
NM_001135602.3:c.840+21C>T	NP_001129074.2:n.840+21C>T
NM_001317040.2:c.1377+21C>T	NP_001303969.2:n.1377+21C>T
NM_001393580.1:c.1233+21C>T	NP_001380509.1:n.1233+21C>T