Canonical Allele Identifier: CA352000730

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33038774C>G (hg19) ; chr3:g.32997282C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997282C>G , CM000665.2:g.32997282C>G	GRCh38
NC_000003.11:g.33038774C>G , CM000665.1:g.33038774C>G	GRCh37
NC_000003.10:g.33013778C>G	NCBI36
NG_009005.1:g.104921G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1797G>C MANE Select	ENSP00000306920.4:p.Leu599Phe
ENST00000307363.9:c.1797G>C	ENSP00000306920.4:p.Leu599Phe
ENST00000307377.12:c.1404G>C	ENSP00000305920.8:p.Leu468Phe
ENST00000399402.7:c.1707G>C	ENSP00000382333.2:p.Leu569Phe
NM_000404.2:c.1797G>C	NP_000395.2:p.Leu599Phe
NM_000404.3:c.1797G>C	NP_000395.2:p.Leu599Phe
NM_001079811.1:c.1707G>C	NP_001073279.1:p.Leu569Phe
NM_001079811.2:c.1707G>C	NP_001073279.1:p.Leu569Phe
NM_001135602.1:c.1404G>C	NP_001129074.1:p.Leu468Phe
NM_001135602.2:c.1404G>C	NP_001129074.1:p.Leu468Phe
NM_001317040.1:c.1941G>C	NP_001303969.1:p.Leu647Phe
NM_000404.4:c.1797G>C MANE Select	NP_000395.3:p.Leu599Phe
NM_001079811.3:c.1707G>C	NP_001073279.2:p.Leu569Phe
NM_001135602.3:c.1404G>C	NP_001129074.2:p.Leu468Phe
NM_001317040.2:c.1941G>C	NP_001303969.2:p.Leu647Phe
NM_001393580.1:c.1734+16774G>C	NP_001380509.1:n.1734+16774G>C