Canonical Allele Identifier: CA352000829

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33038823A>C (hg19) ; chr3:g.32997331A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997331A>C , CM000665.2:g.32997331A>C	GRCh38
NC_000003.11:g.33038823A>C , CM000665.1:g.33038823A>C	GRCh37
NC_000003.10:g.33013827A>C	NCBI36
NG_009005.1:g.104872T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.1748T>G MANE Select	ENSP00000306920.4:p.Ile583Ser
ENST00000307363.9:c.1748T>G	ENSP00000306920.4:p.Ile583Ser
ENST00000307377.12:c.1355T>G	ENSP00000305920.8:p.Ile452Ser
ENST00000399402.7:c.1658T>G	ENSP00000382333.2:p.Ile553Ser
NM_000404.2:c.1748T>G	NP_000395.2:p.Ile583Ser
NM_000404.3:c.1748T>G	NP_000395.2:p.Ile583Ser
NM_001079811.1:c.1658T>G	NP_001073279.1:p.Ile553Ser
NM_001079811.2:c.1658T>G	NP_001073279.1:p.Ile553Ser
NM_001135602.1:c.1355T>G	NP_001129074.1:p.Ile452Ser
NM_001135602.2:c.1355T>G	NP_001129074.1:p.Ile452Ser
NM_001317040.1:c.1892T>G	NP_001303969.1:p.Ile631Ser
NM_000404.4:c.1748T>G MANE Select	NP_000395.3:p.Ile583Ser
NM_001079811.3:c.1658T>G	NP_001073279.2:p.Ile553Ser
NM_001135602.3:c.1355T>G	NP_001129074.2:p.Ile452Ser
NM_001317040.2:c.1892T>G	NP_001303969.2:p.Ile631Ser
NM_001393580.1:c.1734+16725T>G	NP_001380509.1:n.1734+16725T>G