Canonical Allele Identifier: CA432960440

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2938128
• ClinVar RCV Id: RCV003796950
• MyVariant Identifiers: chr3:g.33038810G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997318G>A , CM000665.2:g.32997318G>A	GRCh38
NC_000003.11:g.33038810G>A , CM000665.1:g.33038810G>A	GRCh37
NC_000003.10:g.33013814G>A	NCBI36
NG_009005.1:g.104885C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.1761C>T MANE Select	ENSP00000306920.4:p.Asn587=
ENST00000307363.9:c.1761C>T	ENSP00000306920.4:p.Asn587=
ENST00000307377.12:c.1368C>T	ENSP00000305920.8:p.Asn456=
ENST00000399402.7:c.1671C>T	ENSP00000382333.2:p.Asn557=
NM_000404.2:c.1761C>T	NP_000395.2:p.Asn587=
NM_000404.3:c.1761C>T	NP_000395.2:p.Asn587=
NM_001079811.1:c.1671C>T	NP_001073279.1:p.Asn557=
NM_001079811.2:c.1671C>T	NP_001073279.1:p.Asn557=
NM_001135602.1:c.1368C>T	NP_001129074.1:p.Asn456=
NM_001135602.2:c.1368C>T	NP_001129074.1:p.Asn456=
NM_001317040.1:c.1905C>T	NP_001303969.1:p.Asn635=
NM_000404.4:c.1761C>T MANE Select	NP_000395.3:p.Asn587=
NM_001079811.3:c.1671C>T	NP_001073279.2:p.Asn557=
NM_001135602.3:c.1368C>T	NP_001129074.2:p.Asn456=
NM_001317040.2:c.1905C>T	NP_001303969.2:p.Asn635=
NM_001393580.1:c.1734+16738C>T	NP_001380509.1:n.1734+16738C>T