Canonical Allele Identifier: CA351999266

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33046150C>G , CM000665.2:g.33046150C>G	GRCh38
NC_000003.11:g.33087642C>G , CM000665.1:g.33087642C>G	GRCh37
NC_000003.10:g.33062646C>G	NCBI36
NG_009005.1:g.56053G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1038G>C MANE Select	NP_000395.3:p.Lys346Asn
ENST00000307363.10:c.1038G>C MANE Select	ENSP00000306920.4:p.Lys346Asn
NM_000404.2:c.1038G>C	NP_000395.2:p.Lys346Asn
NM_000404.3:c.1038G>C	NP_000395.2:p.Lys346Asn
NM_001079811.1:c.948G>C	NP_001073279.1:p.Lys316Asn
NM_001079811.2:c.948G>C	NP_001073279.1:p.Lys316Asn
NM_001079811.3:c.948G>C	NP_001073279.2:p.Lys316Asn
NM_001135602.1:c.645G>C	NP_001129074.1:p.Lys215Asn
NM_001135602.2:c.645G>C	NP_001129074.1:p.Lys215Asn
NM_001135602.3:c.645G>C	NP_001129074.2:p.Lys215Asn
NM_001317040.1:c.1182G>C	NP_001303969.1:p.Lys394Asn
NM_001317040.2:c.1182G>C	NP_001303969.2:p.Lys394Asn
NM_001393580.1:c.1038G>C	NP_001380509.1:p.Lys346Asn
ENST00000307363.9:c.1038G>C	ENSP00000306920.4:p.Lys346Asn
ENST00000307377.12:c.645G>C	ENSP00000305920.8:p.Lys215Asn
ENST00000399402.7:c.948G>C	ENSP00000382333.2:p.Lys316Asn
ENST00000482097.5:n.413G>C
ENST00000485698.5:n.441G>C
ENST00000490658.2:n.43G>C
ENST00000498537.5:n.564G>C