Canonical Allele Identifier: CA432953775

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33063136C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021644C>A , CM000665.2:g.33021644C>A	GRCh38
NC_000003.11:g.33063136C>A , CM000665.1:g.33063136C>A	GRCh37
NC_000003.10:g.33038140C>A	NCBI36
NG_009005.1:g.80559G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1155G>T MANE Select	ENSP00000306920.4:p.Val385=
ENST00000307363.9:c.1155G>T	ENSP00000306920.4:p.Val385=
ENST00000307377.12:c.762G>T	ENSP00000305920.8:p.Val254=
ENST00000399402.7:c.1065G>T	ENSP00000382333.2:p.Val355=
ENST00000461475.5:n.254G>T
ENST00000467571.5:n.192G>T
ENST00000473477.1:n.187G>T
ENST00000482097.5:n.530G>T
ENST00000497796.5:n.407G>T
NM_000404.2:c.1155G>T	NP_000395.2:p.Val385=
NM_000404.3:c.1155G>T	NP_000395.2:p.Val385=
NM_001079811.1:c.1065G>T	NP_001073279.1:p.Val355=
NM_001079811.2:c.1065G>T	NP_001073279.1:p.Val355=
NM_001135602.1:c.762G>T	NP_001129074.1:p.Val254=
NM_001135602.2:c.762G>T	NP_001129074.1:p.Val254=
NM_001317040.1:c.1299G>T	NP_001303969.1:p.Val433=
XR_001740634.1:n.1543-544C>A
NM_000404.4:c.1155G>T MANE Select	NP_000395.3:p.Val385=
NM_001079811.3:c.1065G>T	NP_001073279.2:p.Val355=
NM_001135602.3:c.762G>T	NP_001129074.2:p.Val254=
NM_001317040.2:c.1299G>T	NP_001303969.2:p.Val433=
NM_001393580.1:c.1155G>T	NP_001380509.1:p.Val385=