Canonical Allele Identifier: CA352000325

Gene: GLB1

Linked Data

• ClinVar Variation Id: 1974200
• ClinVar RCV Id: RCV002741282
• MyVariant Identifiers: chr3:g.33038668C>A (hg19) ; chr3:g.32997176C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997176C>A , CM000665.2:g.32997176C>A	GRCh38
NC_000003.11:g.33038668C>A , CM000665.1:g.33038668C>A	GRCh37
NC_000003.10:g.33013672C>A	NCBI36
NG_009005.1:g.105027G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1903G>T MANE Select	ENSP00000306920.4:p.Ala635Ser
ENST00000307363.9:c.1903G>T	ENSP00000306920.4:p.Ala635Ser
ENST00000307377.12:c.1510G>T	ENSP00000305920.8:p.Ala504Ser
ENST00000399402.7:c.1813G>T	ENSP00000382333.2:p.Ala605Ser
NM_000404.2:c.1903G>T	NP_000395.2:p.Ala635Ser
NM_000404.3:c.1903G>T	NP_000395.2:p.Ala635Ser
NM_001079811.1:c.1813G>T	NP_001073279.1:p.Ala605Ser
NM_001079811.2:c.1813G>T	NP_001073279.1:p.Ala605Ser
NM_001135602.1:c.1510G>T	NP_001129074.1:p.Ala504Ser
NM_001135602.2:c.1510G>T	NP_001129074.1:p.Ala504Ser
NM_001317040.1:c.2047G>T	NP_001303969.1:p.Ala683Ser
NM_000404.4:c.1903G>T MANE Select	NP_000395.3:p.Ala635Ser
NM_001079811.3:c.1813G>T	NP_001073279.2:p.Ala605Ser
NM_001135602.3:c.1510G>T	NP_001129074.2:p.Ala504Ser
NM_001317040.2:c.2047G>T	NP_001303969.2:p.Ala683Ser
NM_001393580.1:c.1734+16880G>T	NP_001380509.1:n.1734+16880G>T