Canonical Allele Identifier: CA351992999

Gene: GLB1

Linked Data

• ClinVar Variation Id: 1500957
• ClinVar RCV Id: RCV002017102
• dbSNP Id: rs1402467081
• MyVariant Identifiers: chr3:g.33063090G>T (hg19) ; chr3:g.33021598G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021598G>T , CM000665.2:g.33021598G>T	GRCh38
NC_000003.11:g.33063090G>T , CM000665.1:g.33063090G>T	GRCh37
NC_000003.10:g.33038094G>T	NCBI36
NG_009005.1:g.80605C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1201C>A MANE Select	ENSP00000306920.4:p.Leu401Ile
ENST00000307363.9:c.1201C>A	ENSP00000306920.4:p.Leu401Ile
ENST00000307377.12:c.808C>A	ENSP00000305920.8:p.Leu270Ile
ENST00000399402.7:c.1111C>A	ENSP00000382333.2:p.Leu371Ile
ENST00000461475.5:n.300C>A
ENST00000467571.5:n.238C>A
ENST00000473477.1:n.233C>A
ENST00000497796.5:n.453C>A
NM_000404.2:c.1201C>A	NP_000395.2:p.Leu401Ile
NM_000404.3:c.1201C>A	NP_000395.2:p.Leu401Ile
NM_001079811.1:c.1111C>A	NP_001073279.1:p.Leu371Ile
NM_001079811.2:c.1111C>A	NP_001073279.1:p.Leu371Ile
NM_001135602.1:c.808C>A	NP_001129074.1:p.Leu270Ile
NM_001135602.2:c.808C>A	NP_001129074.1:p.Leu270Ile
NM_001317040.1:c.1345C>A	NP_001303969.1:p.Leu449Ile
XR_001740634.1:n.1543-590G>T
NM_000404.4:c.1201C>A MANE Select	NP_000395.3:p.Leu401Ile
NM_001079811.3:c.1111C>A	NP_001073279.2:p.Leu371Ile
NM_001135602.3:c.808C>A	NP_001129074.2:p.Leu270Ile
NM_001317040.2:c.1345C>A	NP_001303969.2:p.Leu449Ile
NM_001393580.1:c.1201C>A	NP_001380509.1:p.Leu401Ile