Canonical Allele Identifier: CA351986242

Gene: GLB1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33014228C>G , CM000665.2:g.33014228C>G	GRCh38
NC_000003.11:g.33055720C>G , CM000665.1:g.33055720C>G	GRCh37
NC_000003.10:g.33030724C>G	NCBI36
NG_009005.1:g.87975G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1562G>C MANE Select	ENSP00000306920.4:p.Cys521Ser
ENST00000307363.9:c.1562G>C	ENSP00000306920.4:p.Cys521Ser
ENST00000307377.12:c.1169G>C	ENSP00000305920.8:p.Cys390Ser
ENST00000399402.7:c.1472G>C	ENSP00000382333.2:p.Cys491Ser
ENST00000461475.5:n.661G>C
ENST00000497796.5:n.814G>C
NM_000404.2:c.1562G>C	NP_000395.2:p.Arg521Pro
NM_000404.3:c.1562G>C	NP_000395.2:p.Arg521Pro
NM_001079811.1:c.1472G>C	NP_001073279.1:p.Arg491Pro
NM_001079811.2:c.1472G>C	NP_001073279.1:p.Arg491Pro
NM_001135602.1:c.1169G>C	NP_001129074.1:p.Arg390Pro
NM_001135602.2:c.1169G>C	NP_001129074.1:p.Arg390Pro
NM_001317040.1:c.1706G>C	NP_001303969.1:p.Arg569Pro
NM_000404.4:c.1562G>C MANE Select	NP_000395.3:p.Cys521Ser
NM_001079811.3:c.1472G>C	NP_001073279.2:p.Cys491Ser
NM_001135602.3:c.1169G>C	NP_001129074.2:p.Cys390Ser
NM_001317040.2:c.1706G>C	NP_001303969.2:p.Cys569Ser
NM_001393580.1:c.1562G>C	NP_001380509.1:p.Cys521Ser