Canonical Allele Identifier: CA351993004

Gene: GLB1

Linked Data

• gnomAD v3: 3-33021599-G-C
• gnomAD v4: 3-33021599-G-C
• MyVariant Identifiers: chr3:g.33063091G>C (hg19) ; chr3:g.33021599G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021599G>C , CM000665.2:g.33021599G>C	GRCh38
NC_000003.11:g.33063091G>C , CM000665.1:g.33063091G>C	GRCh37
NC_000003.10:g.33038095G>C	NCBI36
NG_009005.1:g.80604C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1200C>G MANE Select	ENSP00000306920.4:p.Ser400Arg
ENST00000307363.9:c.1200C>G	ENSP00000306920.4:p.Ser400Arg
ENST00000307377.12:c.807C>G	ENSP00000305920.8:p.Ser269Arg
ENST00000399402.7:c.1110C>G	ENSP00000382333.2:p.Ser370Arg
ENST00000461475.5:n.299C>G
ENST00000467571.5:n.237C>G
ENST00000473477.1:n.232C>G
ENST00000497796.5:n.452C>G
NM_000404.2:c.1200C>G	NP_000395.2:p.Ser400Arg
NM_000404.3:c.1200C>G	NP_000395.2:p.Ser400Arg
NM_001079811.1:c.1110C>G	NP_001073279.1:p.Ser370Arg
NM_001079811.2:c.1110C>G	NP_001073279.1:p.Ser370Arg
NM_001135602.1:c.807C>G	NP_001129074.1:p.Ser269Arg
NM_001135602.2:c.807C>G	NP_001129074.1:p.Ser269Arg
NM_001317040.1:c.1344C>G	NP_001303969.1:p.Ser448Arg
XR_001740634.1:n.1543-589G>C
NM_000404.4:c.1200C>G MANE Select	NP_000395.3:p.Ser400Arg
NM_001079811.3:c.1110C>G	NP_001073279.2:p.Ser370Arg
NM_001135602.3:c.807C>G	NP_001129074.2:p.Ser269Arg
NM_001317040.2:c.1344C>G	NP_001303969.2:p.Ser448Arg
NM_001393580.1:c.1200C>G	NP_001380509.1:p.Ser400Arg