Canonical Allele Identifier: CA10615629

Gene: GLB1

Linked Data

• ClinVar Variation Id: 344782
• ClinVar RCV Id: RCV000282978 ; RCV000347304
• dbSNP Id: rs76762176
• gnomAD v2: 3-33038355-T-C
• gnomAD v3: 3-32996863-T-C
• gnomAD v4: 3-32996863-T-C
• MyVariant Identifiers: chr3:g.33038355T>C (hg19) ; chr3:g.32996863T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32996863T>C , CM000665.2:g.32996863T>C	GRCh38
NC_000003.11:g.33038355T>C , CM000665.1:g.33038355T>C	GRCh37
NC_000003.10:g.33013359T>C	NCBI36
NG_009005.1:g.105340A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.*182A>G MANE Select	ENSP00000306920.4:n.*182A>G
ENST00000307363.9:c.*182A>G	ENSP00000306920.4:n.*182A>G
ENST00000307377.12:c.*182A>G	ENSP00000305920.8:n.*182A>G
ENST00000399402.7:c.*182A>G	ENSP00000382333.2:n.*182A>G
NM_000404.2:c.*182A>G	NP_000395.2:n.*182A>G
NM_000404.3:c.*182A>G	NP_000395.2:n.*182A>G
NM_001079811.1:c.*182A>G	NP_001073279.1:n.*182A>G
NM_001079811.2:c.*182A>G	NP_001073279.1:n.*182A>G
NM_001135602.1:c.*182A>G	NP_001129074.1:n.*182A>G
NM_001135602.2:c.*182A>G	NP_001129074.1:n.*182A>G
NM_001317040.1:c.*182A>G	NP_001303969.1:n.*182A>G
NM_000404.4:c.*182A>G MANE Select	NP_000395.3:n.*182A>G
NM_001079811.3:c.*182A>G	NP_001073279.2:n.*182A>G
NM_001135602.3:c.*182A>G	NP_001129074.2:n.*182A>G
NM_001317040.2:c.*182A>G	NP_001303969.2:n.*182A>G
NM_001393580.1:c.1734+17193A>G	NP_001380509.1:n.1734+17193A>G