Canonical Allele Identifier: CA2299343

Gene: GLB1

Linked Data

• dbSNP Id: rs755478023
• ExAC: 3:33055648 T / C
• gnomAD v2: 3-33055648-T-C
• gnomAD v3: 3-33014156-T-C
• gnomAD v4: 3-33014156-T-C
• MyVariant Identifiers: chr3:g.33055648T>C (hg19) ; chr3:g.33014156T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33014156T>C , CM000665.2:g.33014156T>C	GRCh38
NC_000003.11:g.33055648T>C , CM000665.1:g.33055648T>C	GRCh37
NC_000003.10:g.33030652T>C	NCBI36
NG_009005.1:g.88047A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1634A>G MANE Select	ENSP00000306920.4:p.Asn545Ser
ENST00000307363.9:c.1634A>G	ENSP00000306920.4:p.Asn545Ser
ENST00000307377.12:c.1241A>G	ENSP00000305920.8:p.Asn414Ser
ENST00000399402.7:c.1544A>G	ENSP00000382333.2:p.Asn515Ser
ENST00000461475.5:n.733A>G
ENST00000497796.5:n.886A>G
NM_000404.2:c.1634A>G	NP_000395.2:p.Asn545Ser
NM_000404.3:c.1634A>G	NP_000395.2:p.Asn545Ser
NM_001079811.1:c.1544A>G	NP_001073279.1:p.Asn515Ser
NM_001079811.2:c.1544A>G	NP_001073279.1:p.Asn515Ser
NM_001135602.1:c.1241A>G	NP_001129074.1:p.Asn414Ser
NM_001135602.2:c.1241A>G	NP_001129074.1:p.Asn414Ser
NM_001317040.1:c.1778A>G	NP_001303969.1:p.Asn593Ser
NM_000404.4:c.1634A>G MANE Select	NP_000395.3:p.Asn545Ser
NM_001079811.3:c.1544A>G	NP_001073279.2:p.Asn515Ser
NM_001135602.3:c.1241A>G	NP_001129074.2:p.Asn414Ser
NM_001317040.2:c.1778A>G	NP_001303969.2:p.Asn593Ser
NM_001393580.1:c.1634A>G	NP_001380509.1:p.Asn545Ser