Canonical Allele Identifier: CA10615626

Gene: GLB1

Linked Data

• ClinVar Variation Id: 344778
• ClinVar RCV Id: RCV000331429 ; RCV000367464
• dbSNP Id: rs12167
• gnomAD v2: 3-33038183-A-G
• gnomAD v3: 3-32996691-A-G
• gnomAD v4: 3-32996691-A-G
• MyVariant Identifiers: chr3:g.33038183A>G (hg19) ; chr3:g.32996691A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32996691A>G , CM000665.2:g.32996691A>G	GRCh38
NC_000003.11:g.33038183A>G , CM000665.1:g.33038183A>G	GRCh37
NC_000003.10:g.33013187A>G	NCBI36
NG_009005.1:g.105512T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.*354T>C MANE Select	ENSP00000306920.4:n.*354T>C
ENST00000307363.9:c.*354T>C	ENSP00000306920.4:n.*354T>C
ENST00000399402.7:c.*354T>C	ENSP00000382333.2:n.*354T>C
NM_000404.2:c.*354T>C	NP_000395.2:n.*354T>C
NM_000404.3:c.*354T>C	NP_000395.2:n.*354T>C
NM_001079811.1:c.*354T>C	NP_001073279.1:n.*354T>C
NM_001079811.2:c.*354T>C	NP_001073279.1:n.*354T>C
NM_001135602.1:c.*354T>C	NP_001129074.1:n.*354T>C
NM_001135602.2:c.*354T>C	NP_001129074.1:n.*354T>C
NM_001317040.1:c.*354T>C	NP_001303969.1:n.*354T>C
NM_000404.4:c.*354T>C MANE Select	NP_000395.3:n.*354T>C
NM_001079811.3:c.*354T>C	NP_001073279.2:n.*354T>C
NM_001135602.3:c.*354T>C	NP_001129074.2:n.*354T>C
NM_001317040.2:c.*354T>C	NP_001303969.2:n.*354T>C
NM_001393580.1:c.1734+17365T>C	NP_001380509.1:n.1734+17365T>C