Canonical Allele Identifier: CA352001052

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051792C>G , CM000665.2:g.33051792C>G	GRCh38
NC_000003.11:g.33093284C>G , CM000665.1:g.33093284C>G	GRCh37
NC_000003.10:g.33068288C>G	NCBI36
NG_009005.1:g.50411G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.921G>C MANE Select	NP_000395.3:p.Met307Ile
ENST00000307363.10:c.921G>C MANE Select	ENSP00000306920.4:p.Met307Ile
NM_000404.2:c.921G>C	NP_000395.2:p.Met307Ile
NM_000404.3:c.921G>C	NP_000395.2:p.Met307Ile
NM_001079811.1:c.831G>C	NP_001073279.1:p.Met277Ile
NM_001079811.2:c.831G>C	NP_001073279.1:p.Met277Ile
NM_001079811.3:c.831G>C	NP_001073279.2:p.Met277Ile
NM_001135602.1:c.528G>C	NP_001129074.1:p.Met176Ile
NM_001135602.2:c.528G>C	NP_001129074.1:p.Met176Ile
NM_001135602.3:c.528G>C	NP_001129074.2:p.Met176Ile
NM_001317040.1:c.1065G>C	NP_001303969.1:p.Met355Ile
NM_001317040.2:c.1065G>C	NP_001303969.2:p.Met355Ile
NM_001393580.1:c.921G>C	NP_001380509.1:p.Met307Ile
ENST00000307363.9:c.921G>C	ENSP00000306920.4:p.Met307Ile
ENST00000307377.12:c.528G>C	ENSP00000305920.8:p.Met176Ile
ENST00000399402.7:c.831G>C	ENSP00000382333.2:p.Met277Ile
ENST00000415454.1:c.444G>C	ENSP00000411813.1:p.Met148Ile
ENST00000482097.5:n.296G>C
ENST00000485698.5:n.324G>C
ENST00000498537.5:n.447G>C