Canonical Allele Identifier: CA352000225

Gene: GLB1

Linked Data

• gnomAD v4: 3-32997152-C-A
• MyVariant Identifiers: chr3:g.33038644C>A (hg19) ; chr3:g.32997152C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997152C>A , CM000665.2:g.32997152C>A	GRCh38
NC_000003.11:g.33038644C>A , CM000665.1:g.33038644C>A	GRCh37
NC_000003.10:g.33013648C>A	NCBI36
NG_009005.1:g.105051G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1927G>T MANE Select	ENSP00000306920.4:p.Val643Phe
ENST00000307363.9:c.1927G>T	ENSP00000306920.4:p.Val643Phe
ENST00000307377.12:c.1534G>T	ENSP00000305920.8:p.Val512Phe
ENST00000399402.7:c.1837G>T	ENSP00000382333.2:p.Val613Phe
NM_000404.2:c.1927G>T	NP_000395.2:p.Val643Phe
NM_000404.3:c.1927G>T	NP_000395.2:p.Val643Phe
NM_001079811.1:c.1837G>T	NP_001073279.1:p.Val613Phe
NM_001079811.2:c.1837G>T	NP_001073279.1:p.Val613Phe
NM_001135602.1:c.1534G>T	NP_001129074.1:p.Val512Phe
NM_001135602.2:c.1534G>T	NP_001129074.1:p.Val512Phe
NM_001317040.1:c.2071G>T	NP_001303969.1:p.Val691Phe
NM_000404.4:c.1927G>T MANE Select	NP_000395.3:p.Val643Phe
NM_001079811.3:c.1837G>T	NP_001073279.2:p.Val613Phe
NM_001135602.3:c.1534G>T	NP_001129074.2:p.Val512Phe
NM_001317040.2:c.2071G>T	NP_001303969.2:p.Val691Phe
NM_001393580.1:c.1734+16904G>T	NP_001380509.1:n.1734+16904G>T