Canonical Allele Identifier: CA10615627

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32996726C>T , CM000665.2:g.32996726C>T	GRCh38
NC_000003.11:g.33038218C>T , CM000665.1:g.33038218C>T	GRCh37
NC_000003.10:g.33013222C>T	NCBI36
NG_009005.1:g.105477G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.*319G>A MANE Select	NP_000395.3:n.*319G>A
ENST00000307363.10:c.*319G>A MANE Select	ENSP00000306920.4:n.*319G>A
NM_000404.2:c.*319G>A	NP_000395.2:n.*319G>A
NM_000404.3:c.*319G>A	NP_000395.2:n.*319G>A
NM_001079811.1:c.*319G>A	NP_001073279.1:n.*319G>A
NM_001079811.2:c.*319G>A	NP_001073279.1:n.*319G>A
NM_001079811.3:c.*319G>A	NP_001073279.2:n.*319G>A
NM_001135602.1:c.*319G>A	NP_001129074.1:n.*319G>A
NM_001135602.2:c.*319G>A	NP_001129074.1:n.*319G>A
NM_001135602.3:c.*319G>A	NP_001129074.2:n.*319G>A
NM_001317040.1:c.*319G>A	NP_001303969.1:n.*319G>A
NM_001317040.2:c.*319G>A	NP_001303969.2:n.*319G>A
NM_001393580.1:c.1734+17330G>A	NP_001380509.1:n.1734+17330G>A
ENST00000307363.9:c.*319G>A	ENSP00000306920.4:n.*319G>A
ENST00000399402.7:c.*319G>A	ENSP00000382333.2:n.*319G>A