Canonical Allele Identifier: CA351992929

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33063079C>A (hg19) ; chr3:g.33021587C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021587C>A , CM000665.2:g.33021587C>A	GRCh38
NC_000003.11:g.33063079C>A , CM000665.1:g.33063079C>A	GRCh37
NC_000003.10:g.33038083C>A	NCBI36
NG_009005.1:g.80616G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1212G>T MANE Select	ENSP00000306920.4:p.Leu404Phe
ENST00000307363.9:c.1212G>T	ENSP00000306920.4:p.Leu404Phe
ENST00000307377.12:c.819G>T	ENSP00000305920.8:p.Leu273Phe
ENST00000399402.7:c.1122G>T	ENSP00000382333.2:p.Leu374Phe
ENST00000461475.5:n.311G>T
ENST00000467571.5:n.249G>T
ENST00000473477.1:n.244G>T
ENST00000497796.5:n.464G>T
NM_000404.2:c.1212G>T	NP_000395.2:p.Leu404Phe
NM_000404.3:c.1212G>T	NP_000395.2:p.Leu404Phe
NM_001079811.1:c.1122G>T	NP_001073279.1:p.Leu374Phe
NM_001079811.2:c.1122G>T	NP_001073279.1:p.Leu374Phe
NM_001135602.1:c.819G>T	NP_001129074.1:p.Leu273Phe
NM_001135602.2:c.819G>T	NP_001129074.1:p.Leu273Phe
NM_001317040.1:c.1356G>T	NP_001303969.1:p.Leu452Phe
XR_001740634.1:n.1543-601C>A
NM_000404.4:c.1212G>T MANE Select	NP_000395.3:p.Leu404Phe
NM_001079811.3:c.1122G>T	NP_001073279.2:p.Leu374Phe
NM_001135602.3:c.819G>T	NP_001129074.2:p.Leu273Phe
NM_001317040.2:c.1356G>T	NP_001303969.2:p.Leu452Phe
NM_001393580.1:c.1212G>T	NP_001380509.1:p.Leu404Phe