Canonical Allele Identifier: CA352000756

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997295C>G , CM000665.2:g.32997295C>G	GRCh38
NC_000003.11:g.33038787C>G , CM000665.1:g.33038787C>G	GRCh37
NC_000003.10:g.33013791C>G	NCBI36
NG_009005.1:g.104908G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1784G>C MANE Select	NP_000395.3:p.Arg595Pro
ENST00000307363.10:c.1784G>C MANE Select	ENSP00000306920.4:p.Arg595Pro
NM_000404.2:c.1784G>C	NP_000395.2:p.Arg595Pro
NM_000404.3:c.1784G>C	NP_000395.2:p.Arg595Pro
NM_001079811.1:c.1694G>C	NP_001073279.1:p.Arg565Pro
NM_001079811.2:c.1694G>C	NP_001073279.1:p.Arg565Pro
NM_001079811.3:c.1694G>C	NP_001073279.2:p.Arg565Pro
NM_001135602.1:c.1391G>C	NP_001129074.1:p.Arg464Pro
NM_001135602.2:c.1391G>C	NP_001129074.1:p.Arg464Pro
NM_001135602.3:c.1391G>C	NP_001129074.2:p.Arg464Pro
NM_001317040.1:c.1928G>C	NP_001303969.1:p.Arg643Pro
NM_001317040.2:c.1928G>C	NP_001303969.2:p.Arg643Pro
NM_001393580.1:c.1734+16761G>C	NP_001380509.1:n.1734+16761G>C
ENST00000307363.9:c.1784G>C	ENSP00000306920.4:p.Arg595Pro
ENST00000307377.12:c.1391G>C	ENSP00000305920.8:p.Arg464Pro
ENST00000399402.7:c.1694G>C	ENSP00000382333.2:p.Arg565Pro