Canonical Allele Identifier: CA2299767

Gene: GLB1

Linked Data

• ClinVar Variation Id: 344795
• ClinVar RCV Id: RCV000279897 ; RCV000341987 ; RCV000875466
• dbSNP Id: rs368796666
• ExAC: 3:33114047 G / A
• gnomAD v2: 3-33114047-G-A
• gnomAD v3: 3-33072555-G-A
• gnomAD v4: 3-33072555-G-A
• MyVariant Identifiers: chr3:g.33114047G>A (hg19) ; chr3:g.33072555G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33072555G>A , CM000665.2:g.33072555G>A	GRCh38
NC_000003.11:g.33114047G>A , CM000665.1:g.33114047G>A	GRCh37
NC_000003.10:g.33089051G>A	NCBI36
NG_009005.1:g.29648C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.234C>T MANE Select	ENSP00000306920.4:p.Asn78=
ENST00000307363.9:c.234C>T	ENSP00000306920.4:p.Asn78=
ENST00000307377.12:c.234C>T	ENSP00000305920.8:p.Asn78=
ENST00000399402.7:c.144C>T	ENSP00000382333.2:p.Asn48=
ENST00000415454.1:c.76-14286C>T	ENSP00000411813.1:n.76-14286C>T
ENST00000436768.1:c.378C>T	ENSP00000387989.1:p.Asn126=
ENST00000438227.1:c.76-6998C>T	ENSP00000401250.1:n.76-6998C>T
ENST00000440656.1:c.-148-3585C>T	ENSP00000411769.1:n.-148-3585C>T
ENST00000446732.5:c.144C>T	ENSP00000407365.1:p.Asn48=
ENST00000450835.1:c.144C>T	ENSP00000403264.1:p.Asn48=
ENST00000464355.1:n.192C>T
ENST00000482097.5:n.109-19006C>T
ENST00000485698.5:n.137-19006C>T
ENST00000498537.5:n.133-19006C>T
NM_000404.2:c.234C>T	NP_000395.2:p.Asn78=
NM_000404.3:c.234C>T	NP_000395.2:p.Asn78=
NM_001079811.1:c.144C>T	NP_001073279.1:p.Asn48=
NM_001079811.2:c.144C>T	NP_001073279.1:p.Asn48=
NM_001135602.1:c.234C>T	NP_001129074.1:p.Asn78=
NM_001135602.2:c.234C>T	NP_001129074.1:p.Asn78=
NM_001317040.1:c.378C>T	NP_001303969.1:p.Asn126=
NM_000404.4:c.234C>T MANE Select	NP_000395.3:p.Asn78=
NM_001079811.3:c.144C>T	NP_001073279.2:p.Asn48=
NM_001135602.3:c.234C>T	NP_001129074.2:p.Asn78=
NM_001317040.2:c.378C>T	NP_001303969.2:p.Asn126=
NM_001393580.1:c.234C>T	NP_001380509.1:p.Asn78=