Canonical Allele Identifier: CA351992963

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33063084G>T (hg19) ; chr3:g.33021592G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021592G>T , CM000665.2:g.33021592G>T	GRCh38
NC_000003.11:g.33063084G>T , CM000665.1:g.33063084G>T	GRCh37
NC_000003.10:g.33038088G>T	NCBI36
NG_009005.1:g.80611C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1207C>A MANE Select	ENSP00000306920.4:p.Pro403Thr
ENST00000307363.9:c.1207C>A	ENSP00000306920.4:p.Pro403Thr
ENST00000307377.12:c.814C>A	ENSP00000305920.8:p.Pro272Thr
ENST00000399402.7:c.1117C>A	ENSP00000382333.2:p.Pro373Thr
ENST00000461475.5:n.306C>A
ENST00000467571.5:n.244C>A
ENST00000473477.1:n.239C>A
ENST00000497796.5:n.459C>A
NM_000404.2:c.1207C>A	NP_000395.2:p.Pro403Thr
NM_000404.3:c.1207C>A	NP_000395.2:p.Pro403Thr
NM_001079811.1:c.1117C>A	NP_001073279.1:p.Pro373Thr
NM_001079811.2:c.1117C>A	NP_001073279.1:p.Pro373Thr
NM_001135602.1:c.814C>A	NP_001129074.1:p.Pro272Thr
NM_001135602.2:c.814C>A	NP_001129074.1:p.Pro272Thr
NM_001317040.1:c.1351C>A	NP_001303969.1:p.Pro451Thr
XR_001740634.1:n.1543-596G>T
NM_000404.4:c.1207C>A MANE Select	NP_000395.3:p.Pro403Thr
NM_001079811.3:c.1117C>A	NP_001073279.2:p.Pro373Thr
NM_001135602.3:c.814C>A	NP_001129074.2:p.Pro272Thr
NM_001317040.2:c.1351C>A	NP_001303969.2:p.Pro451Thr
NM_001393580.1:c.1207C>A	NP_001380509.1:p.Pro403Thr