Canonical Allele Identifier: CA352000043

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2161080
• ClinVar RCV Id: RCV003078395
• dbSNP Id: rs1283573184
• gnomAD v2: 3-33038602-C-T
• gnomAD v4: 3-32997110-C-T
• MyVariant Identifiers: chr3:g.33038602C>T (hg19) ; chr3:g.32997110C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997110C>T , CM000665.2:g.32997110C>T	GRCh38
NC_000003.11:g.33038602C>T , CM000665.1:g.33038602C>T	GRCh37
NC_000003.10:g.33013606C>T	NCBI36
NG_009005.1:g.105093G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1969G>A MANE Select	ENSP00000306920.4:p.Val657Ile
ENST00000307363.9:c.1969G>A	ENSP00000306920.4:p.Val657Ile
ENST00000307377.12:c.1576G>A	ENSP00000305920.8:p.Val526Ile
ENST00000399402.7:c.1879G>A	ENSP00000382333.2:p.Val627Ile
NM_000404.2:c.1969G>A	NP_000395.2:p.Val657Ile
NM_000404.3:c.1969G>A	NP_000395.2:p.Val657Ile
NM_001079811.1:c.1879G>A	NP_001073279.1:p.Val627Ile
NM_001079811.2:c.1879G>A	NP_001073279.1:p.Val627Ile
NM_001135602.1:c.1576G>A	NP_001129074.1:p.Val526Ile
NM_001135602.2:c.1576G>A	NP_001129074.1:p.Val526Ile
NM_001317040.1:c.2113G>A	NP_001303969.1:p.Val705Ile
NM_000404.4:c.1969G>A MANE Select	NP_000395.3:p.Val657Ile
NM_001079811.3:c.1879G>A	NP_001073279.2:p.Val627Ile
NM_001135602.3:c.1576G>A	NP_001129074.2:p.Val526Ile
NM_001317040.2:c.2113G>A	NP_001303969.2:p.Val705Ile
NM_001393580.1:c.1734+16946G>A	NP_001380509.1:n.1734+16946G>A