Canonical Allele Identifier: CA351984362

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33014132A>G , CM000665.2:g.33014132A>G	GRCh38
NC_000003.11:g.33055624A>G , CM000665.1:g.33055624A>G	GRCh37
NC_000003.10:g.33030628A>G	NCBI36
NG_009005.1:g.88071T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1658T>C MANE Select	NP_000395.3:p.Met553Thr
ENST00000307363.10:c.1658T>C MANE Select	ENSP00000306920.4:p.Met553Thr
NM_000404.2:c.1658T>C	NP_000395.2:p.Met553Thr
NM_000404.3:c.1658T>C	NP_000395.2:p.Met553Thr
NM_001079811.1:c.1568T>C	NP_001073279.1:p.Met523Thr
NM_001079811.2:c.1568T>C	NP_001073279.1:p.Met523Thr
NM_001079811.3:c.1568T>C	NP_001073279.2:p.Met523Thr
NM_001135602.1:c.1265T>C	NP_001129074.1:p.Met422Thr
NM_001135602.2:c.1265T>C	NP_001129074.1:p.Met422Thr
NM_001135602.3:c.1265T>C	NP_001129074.2:p.Met422Thr
NM_001317040.1:c.1802T>C	NP_001303969.1:p.Met601Thr
NM_001317040.2:c.1802T>C	NP_001303969.2:p.Met601Thr
NM_001393580.1:c.1658T>C	NP_001380509.1:p.Met553Thr
ENST00000307363.9:c.1658T>C	ENSP00000306920.4:p.Met553Thr
ENST00000307377.12:c.1265T>C	ENSP00000305920.8:p.Met422Thr
ENST00000399402.7:c.1568T>C	ENSP00000382333.2:p.Met523Thr
ENST00000461475.5:n.757T>C