Canonical Allele Identifier: CA72646038

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33014076G>A , CM000665.2:g.33014076G>A	GRCh38
NC_000003.11:g.33055568G>A , CM000665.1:g.33055568G>A	GRCh37
NC_000003.10:g.33030572G>A	NCBI36
NG_009005.1:g.88127C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1714C>T MANE Select	NP_000395.3:p.Gln572Ter
ENST00000307363.10:c.1714C>T MANE Select	ENSP00000306920.4:p.Gln572Ter
NM_000404.2:c.1714C>T	NP_000395.2:p.Gln572Ter
NM_000404.3:c.1714C>T	NP_000395.2:p.Gln572Ter
NM_001079811.1:c.1624C>T	NP_001073279.1:p.Gln542Ter
NM_001079811.2:c.1624C>T	NP_001073279.1:p.Gln542Ter
NM_001079811.3:c.1624C>T	NP_001073279.2:p.Gln542Ter
NM_001135602.1:c.1321C>T	NP_001129074.1:p.Gln441Ter
NM_001135602.2:c.1321C>T	NP_001129074.1:p.Gln441Ter
NM_001135602.3:c.1321C>T	NP_001129074.2:p.Gln441Ter
NM_001317040.1:c.1858C>T	NP_001303969.1:p.Gln620Ter
NM_001317040.2:c.1858C>T	NP_001303969.2:p.Gln620Ter
NM_001393580.1:c.1714C>T	NP_001380509.1:p.Gln572Ter
ENST00000307363.9:c.1714C>T	ENSP00000306920.4:p.Gln572Ter
ENST00000307377.12:c.1321C>T	ENSP00000305920.8:p.Gln441Ter
ENST00000399402.7:c.1624C>T	ENSP00000382333.2:p.Gln542Ter
ENST00000461475.5:n.813C>T