Canonical Allele Identifier: CA432953740

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33063127A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021635A>G , CM000665.2:g.33021635A>G	GRCh38
NC_000003.11:g.33063127A>G , CM000665.1:g.33063127A>G	GRCh37
NC_000003.10:g.33038131A>G	NCBI36
NG_009005.1:g.80568T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1164T>C MANE Select	ENSP00000306920.4:p.Ala388=
ENST00000307363.9:c.1164T>C	ENSP00000306920.4:p.Ala388=
ENST00000307377.12:c.771T>C	ENSP00000305920.8:p.Ala257=
ENST00000399402.7:c.1074T>C	ENSP00000382333.2:p.Ala358=
ENST00000461475.5:n.263T>C
ENST00000467571.5:n.201T>C
ENST00000473477.1:n.196T>C
ENST00000482097.5:n.539T>C
ENST00000497796.5:n.416T>C
NM_000404.2:c.1164T>C	NP_000395.2:p.Ala388=
NM_000404.3:c.1164T>C	NP_000395.2:p.Ala388=
NM_001079811.1:c.1074T>C	NP_001073279.1:p.Ala358=
NM_001079811.2:c.1074T>C	NP_001073279.1:p.Ala358=
NM_001135602.1:c.771T>C	NP_001129074.1:p.Ala257=
NM_001135602.2:c.771T>C	NP_001129074.1:p.Ala257=
NM_001317040.1:c.1308T>C	NP_001303969.1:p.Ala436=
XR_001740634.1:n.1543-553A>G
NM_000404.4:c.1164T>C MANE Select	NP_000395.3:p.Ala388=
NM_001079811.3:c.1074T>C	NP_001073279.2:p.Ala358=
NM_001135602.3:c.771T>C	NP_001129074.2:p.Ala257=
NM_001317040.2:c.1308T>C	NP_001303969.2:p.Ala436=
NM_001393580.1:c.1164T>C	NP_001380509.1:p.Ala388=