Canonical Allele Identifier: CA351993292

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33063122T>G (hg19) ; chr3:g.33021630T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021630T>G , CM000665.2:g.33021630T>G	GRCh38
NC_000003.11:g.33063122T>G , CM000665.1:g.33063122T>G	GRCh37
NC_000003.10:g.33038126T>G	NCBI36
NG_009005.1:g.80573A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1169A>C MANE Select	ENSP00000306920.4:p.Asp390Ala
ENST00000307363.9:c.1169A>C	ENSP00000306920.4:p.Asp390Ala
ENST00000307377.12:c.776A>C	ENSP00000305920.8:p.Asp259Ala
ENST00000399402.7:c.1079A>C	ENSP00000382333.2:p.Asp360Ala
ENST00000461475.5:n.268A>C
ENST00000467571.5:n.206A>C
ENST00000473477.1:n.201A>C
ENST00000482097.5:n.544A>C
ENST00000497796.5:n.421A>C
NM_000404.2:c.1169A>C	NP_000395.2:p.Asp390Ala
NM_000404.3:c.1169A>C	NP_000395.2:p.Asp390Ala
NM_001079811.1:c.1079A>C	NP_001073279.1:p.Asp360Ala
NM_001079811.2:c.1079A>C	NP_001073279.1:p.Asp360Ala
NM_001135602.1:c.776A>C	NP_001129074.1:p.Asp259Ala
NM_001135602.2:c.776A>C	NP_001129074.1:p.Asp259Ala
NM_001317040.1:c.1313A>C	NP_001303969.1:p.Asp438Ala
XR_001740634.1:n.1543-558T>G
NM_000404.4:c.1169A>C MANE Select	NP_000395.3:p.Asp390Ala
NM_001079811.3:c.1079A>C	NP_001073279.2:p.Asp360Ala
NM_001135602.3:c.776A>C	NP_001129074.2:p.Asp259Ala
NM_001317040.2:c.1313A>C	NP_001303969.2:p.Asp438Ala
NM_001393580.1:c.1169A>C	NP_001380509.1:p.Asp390Ala