Canonical Allele Identifier: CA351992165

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33059975C>G (hg19) ; chr3:g.33018483C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33018483C>G , CM000665.2:g.33018483C>G	GRCh38
NC_000003.11:g.33059975C>G , CM000665.1:g.33059975C>G	GRCh37
NC_000003.10:g.33034979C>G	NCBI36
NG_009005.1:g.83720G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1312G>C MANE Select	ENSP00000306920.4:p.Gly438Arg
ENST00000307363.9:c.1312G>C	ENSP00000306920.4:p.Gly438Arg
ENST00000307377.12:c.919G>C	ENSP00000305920.8:p.Gly307Arg
ENST00000399402.7:c.1222G>C	ENSP00000382333.2:p.Gly408Arg
ENST00000461475.5:n.411G>C
ENST00000467571.5:n.349G>C
ENST00000497796.5:n.564G>C
NM_000404.2:c.1312G>C	NP_000395.2:p.Gly438Arg
NM_000404.3:c.1312G>C	NP_000395.2:p.Gly438Arg
NM_001079811.1:c.1222G>C	NP_001073279.1:p.Gly408Arg
NM_001079811.2:c.1222G>C	NP_001073279.1:p.Gly408Arg
NM_001135602.1:c.919G>C	NP_001129074.1:p.Gly307Arg
NM_001135602.2:c.919G>C	NP_001129074.1:p.Gly307Arg
NM_001317040.1:c.1456G>C	NP_001303969.1:p.Gly486Arg
NM_000404.4:c.1312G>C MANE Select	NP_000395.3:p.Gly438Arg
NM_001079811.3:c.1222G>C	NP_001073279.2:p.Gly408Arg
NM_001135602.3:c.919G>C	NP_001129074.2:p.Gly307Arg
NM_001317040.2:c.1456G>C	NP_001303969.2:p.Gly486Arg
NM_001393580.1:c.1312G>C	NP_001380509.1:p.Gly438Arg