Canonical Allele Identifier: CA351992867

Gene: GLB1

Linked Data

• COSMIC: COSM5897432 ; COSM5897433
• MyVariant Identifiers: chr3:g.33063069G>A (hg19) ; chr3:g.33021577G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021577G>A , CM000665.2:g.33021577G>A	GRCh38
NC_000003.11:g.33063069G>A , CM000665.1:g.33063069G>A	GRCh37
NC_000003.10:g.33038073G>A	NCBI36
NG_009005.1:g.80626C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1222C>T MANE Select	ENSP00000306920.4:p.Gln408Ter
ENST00000307363.9:c.1222C>T	ENSP00000306920.4:p.Gln408Ter
ENST00000307377.12:c.829C>T	ENSP00000305920.8:p.Gln277Ter
ENST00000399402.7:c.1132C>T	ENSP00000382333.2:p.Gln378Ter
ENST00000461475.5:n.321C>T
ENST00000467571.5:n.259C>T
ENST00000473477.1:n.254C>T
ENST00000497796.5:n.474C>T
NM_000404.2:c.1222C>T	NP_000395.2:p.Gln408Ter
NM_000404.3:c.1222C>T	NP_000395.2:p.Gln408Ter
NM_001079811.1:c.1132C>T	NP_001073279.1:p.Gln378Ter
NM_001079811.2:c.1132C>T	NP_001073279.1:p.Gln378Ter
NM_001135602.1:c.829C>T	NP_001129074.1:p.Gln277Ter
NM_001135602.2:c.829C>T	NP_001129074.1:p.Gln277Ter
NM_001317040.1:c.1366C>T	NP_001303969.1:p.Gln456Ter
XR_001740634.1:n.1543-611G>A
NM_000404.4:c.1222C>T MANE Select	NP_000395.3:p.Gln408Ter
NM_001079811.3:c.1132C>T	NP_001073279.2:p.Gln378Ter
NM_001135602.3:c.829C>T	NP_001129074.2:p.Gln277Ter
NM_001317040.2:c.1366C>T	NP_001303969.2:p.Gln456Ter
NM_001393580.1:c.1222C>T	NP_001380509.1:p.Gln408Ter