Canonical Allele Identifier: CA1355987517

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021598G= , CM000665.2:g.33021598G=	GRCh38
NC_000003.11:g.33063090G= , CM000665.1:g.33063090G=	GRCh37
NC_000003.10:g.33038094G=	NCBI36
NG_009005.1:g.80605C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1201C= MANE Select	ENSP00000306920.4:p.Leu401=
ENST00000307363.9:c.1201C=	ENSP00000306920.4:p.Leu401=
ENST00000307377.12:c.808C=	ENSP00000305920.8:p.Leu270=
ENST00000399402.7:c.1111C=	ENSP00000382333.2:p.Leu371=
ENST00000461475.5:n.300C=
ENST00000467571.5:n.238C=
ENST00000473477.1:n.233C=
ENST00000497796.5:n.453C=
NM_000404.2:c.1201C=	NP_000395.2:p.Leu401=
NM_000404.3:c.1201C=	NP_000395.2:p.Leu401=
NM_001079811.1:c.1111C=	NP_001073279.1:p.Leu371=
NM_001079811.2:c.1111C=	NP_001073279.1:p.Leu371=
NM_001135602.1:c.808C=	NP_001129074.1:p.Leu270=
NM_001135602.2:c.808C=	NP_001129074.1:p.Leu270=
NM_001317040.1:c.1345C=	NP_001303969.1:p.Leu449=
XR_001740634.1:n.1543-590G=
NM_000404.4:c.1201C= MANE Select	NP_000395.3:p.Leu401=
NM_001079811.3:c.1111C=	NP_001073279.2:p.Leu371=
NM_001135602.3:c.808C=	NP_001129074.2:p.Leu270=
NM_001317040.2:c.1345C=	NP_001303969.2:p.Leu449=
NM_001393580.1:c.1201C=	NP_001380509.1:p.Leu401=