Canonical Allele Identifier: CA2299502

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33024299G>A , CM000665.2:g.33024299G>A	GRCh38
NC_000003.11:g.33065791G>A , CM000665.1:g.33065791G>A	GRCh37
NC_000003.10:g.33040795G>A	NCBI36
NG_009005.1:g.77904C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1095C>T MANE Select	NP_000395.3:p.Ile365=
ENST00000307363.10:c.1095C>T MANE Select	ENSP00000306920.4:p.Ile365=
NM_000404.2:c.1095C>T	NP_000395.2:p.Ile365=
NM_000404.3:c.1095C>T	NP_000395.2:p.Ile365=
NM_001079811.1:c.1005C>T	NP_001073279.1:p.Ile335=
NM_001079811.2:c.1005C>T	NP_001073279.1:p.Ile335=
NM_001079811.3:c.1005C>T	NP_001073279.2:p.Ile335=
NM_001135602.1:c.702C>T	NP_001129074.1:p.Ile234=
NM_001135602.2:c.702C>T	NP_001129074.1:p.Ile234=
NM_001135602.3:c.702C>T	NP_001129074.2:p.Ile234=
NM_001317040.1:c.1239C>T	NP_001303969.1:p.Ile413=
NM_001317040.2:c.1239C>T	NP_001303969.2:p.Ile413=
NM_001393580.1:c.1095C>T	NP_001380509.1:p.Ile365=
ENST00000307363.9:c.1095C>T	ENSP00000306920.4:p.Ile365=
ENST00000307377.12:c.702C>T	ENSP00000305920.8:p.Ile234=
ENST00000399402.7:c.1005C>T	ENSP00000382333.2:p.Ile335=
ENST00000461475.5:n.194C>T
ENST00000467571.5:n.132C>T
ENST00000473477.1:n.127C>T
ENST00000482097.5:n.470C>T
ENST00000485698.5:n.498C>T
ENST00000497796.5:n.347C>T
XR_001740634.1:n.1613-1241G>A