Canonical Allele Identifier: CA351992922

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33063078T>G (hg19) ; chr3:g.33021586T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021586T>G , CM000665.2:g.33021586T>G	GRCh38
NC_000003.11:g.33063078T>G , CM000665.1:g.33063078T>G	GRCh37
NC_000003.10:g.33038082T>G	NCBI36
NG_009005.1:g.80617A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1213A>C MANE Select	ENSP00000306920.4:p.Thr405Pro
ENST00000307363.9:c.1213A>C	ENSP00000306920.4:p.Thr405Pro
ENST00000307377.12:c.820A>C	ENSP00000305920.8:p.Thr274Pro
ENST00000399402.7:c.1123A>C	ENSP00000382333.2:p.Thr375Pro
ENST00000461475.5:n.312A>C
ENST00000467571.5:n.250A>C
ENST00000473477.1:n.245A>C
ENST00000497796.5:n.465A>C
NM_000404.2:c.1213A>C	NP_000395.2:p.Thr405Pro
NM_000404.3:c.1213A>C	NP_000395.2:p.Thr405Pro
NM_001079811.1:c.1123A>C	NP_001073279.1:p.Thr375Pro
NM_001079811.2:c.1123A>C	NP_001073279.1:p.Thr375Pro
NM_001135602.1:c.820A>C	NP_001129074.1:p.Thr274Pro
NM_001135602.2:c.820A>C	NP_001129074.1:p.Thr274Pro
NM_001317040.1:c.1357A>C	NP_001303969.1:p.Thr453Pro
XR_001740634.1:n.1543-602T>G
NM_000404.4:c.1213A>C MANE Select	NP_000395.3:p.Thr405Pro
NM_001079811.3:c.1123A>C	NP_001073279.2:p.Thr375Pro
NM_001135602.3:c.820A>C	NP_001129074.2:p.Thr274Pro
NM_001317040.2:c.1357A>C	NP_001303969.2:p.Thr453Pro
NM_001393580.1:c.1213A>C	NP_001380509.1:p.Thr405Pro