Canonical Allele Identifier: CA351985983

Gene: GLB1

Linked Data

• gnomAD v4: 3-33014198-T-G
• MyVariant Identifiers: chr3:g.33055690T>G (hg19) ; chr3:g.33014198T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33014198T>G , CM000665.2:g.33014198T>G	GRCh38
NC_000003.11:g.33055690T>G , CM000665.1:g.33055690T>G	GRCh37
NC_000003.10:g.33030694T>G	NCBI36
NG_009005.1:g.88005A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1592A>C MANE Select	ENSP00000306920.4:p.Asp531Ala
ENST00000307363.9:c.1592A>C	ENSP00000306920.4:p.Asp531Ala
ENST00000307377.12:c.1199A>C	ENSP00000305920.8:p.Asp400Ala
ENST00000399402.7:c.1502A>C	ENSP00000382333.2:p.Asp501Ala
ENST00000461475.5:n.691A>C
ENST00000497796.5:n.844A>C
NM_000404.2:c.1592A>C	NP_000395.2:p.Asp531Ala
NM_000404.3:c.1592A>C	NP_000395.2:p.Asp531Ala
NM_001079811.1:c.1502A>C	NP_001073279.1:p.Asp501Ala
NM_001079811.2:c.1502A>C	NP_001073279.1:p.Asp501Ala
NM_001135602.1:c.1199A>C	NP_001129074.1:p.Asp400Ala
NM_001135602.2:c.1199A>C	NP_001129074.1:p.Asp400Ala
NM_001317040.1:c.1736A>C	NP_001303969.1:p.Asp579Ala
NM_000404.4:c.1592A>C MANE Select	NP_000395.3:p.Asp531Ala
NM_001079811.3:c.1502A>C	NP_001073279.2:p.Asp501Ala
NM_001135602.3:c.1199A>C	NP_001129074.2:p.Asp400Ala
NM_001317040.2:c.1736A>C	NP_001303969.2:p.Asp579Ala
NM_001393580.1:c.1592A>C	NP_001380509.1:p.Asp531Ala