Canonical Allele Identifier: CA351992532

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33018539C>G , CM000665.2:g.33018539C>G	GRCh38
NC_000003.11:g.33060031C>G , CM000665.1:g.33060031C>G	GRCh37
NC_000003.10:g.33035035C>G	NCBI36
NG_009005.1:g.83664G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1256G>C MANE Select	NP_000395.3:p.Arg419Pro
ENST00000307363.10:c.1256G>C MANE Select	ENSP00000306920.4:p.Arg419Pro
NM_000404.2:c.1256G>C	NP_000395.2:p.Arg419Pro
NM_000404.3:c.1256G>C	NP_000395.2:p.Arg419Pro
NM_001079811.1:c.1166G>C	NP_001073279.1:p.Arg389Pro
NM_001079811.2:c.1166G>C	NP_001073279.1:p.Arg389Pro
NM_001079811.3:c.1166G>C	NP_001073279.2:p.Arg389Pro
NM_001135602.1:c.863G>C	NP_001129074.1:p.Arg288Pro
NM_001135602.2:c.863G>C	NP_001129074.1:p.Arg288Pro
NM_001135602.3:c.863G>C	NP_001129074.2:p.Arg288Pro
NM_001317040.1:c.1400G>C	NP_001303969.1:p.Arg467Pro
NM_001317040.2:c.1400G>C	NP_001303969.2:p.Arg467Pro
NM_001393580.1:c.1256G>C	NP_001380509.1:p.Arg419Pro
ENST00000307363.9:c.1256G>C	ENSP00000306920.4:p.Arg419Pro
ENST00000307377.12:c.863G>C	ENSP00000305920.8:p.Arg288Pro
ENST00000399402.7:c.1166G>C	ENSP00000382333.2:p.Arg389Pro
ENST00000461475.5:n.355G>C
ENST00000467571.5:n.293G>C
ENST00000497796.5:n.508G>C