Canonical Allele Identifier: CA351995248

Gene: GLB1

Linked Data

• dbSNP Id: rs797045010
• gnomAD v4: 3-33024297-G-A
• MyVariant Identifiers: chr3:g.33065789G>A (hg19) ; chr3:g.33024297G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33024297G>A , CM000665.2:g.33024297G>A	GRCh38
NC_000003.11:g.33065789G>A , CM000665.1:g.33065789G>A	GRCh37
NC_000003.10:g.33040793G>A	NCBI36
NG_009005.1:g.77906C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.1097C>T MANE Select	ENSP00000306920.4:p.Pro366Leu
ENST00000307363.9:c.1097C>T	ENSP00000306920.4:p.Pro366Leu
ENST00000307377.12:c.704C>T	ENSP00000305920.8:p.Pro235Leu
ENST00000399402.7:c.1007C>T	ENSP00000382333.2:p.Pro336Leu
ENST00000461475.5:n.196C>T
ENST00000467571.5:n.134C>T
ENST00000473477.1:n.129C>T
ENST00000482097.5:n.472C>T
ENST00000485698.5:n.500C>T
ENST00000497796.5:n.349C>T
NM_000404.2:c.1097C>T	NP_000395.2:p.Pro366Leu
NM_000404.3:c.1097C>T	NP_000395.2:p.Pro366Leu
NM_001079811.1:c.1007C>T	NP_001073279.1:p.Pro336Leu
NM_001079811.2:c.1007C>T	NP_001073279.1:p.Pro336Leu
NM_001135602.1:c.704C>T	NP_001129074.1:p.Pro235Leu
NM_001135602.2:c.704C>T	NP_001129074.1:p.Pro235Leu
NM_001317040.1:c.1241C>T	NP_001303969.1:p.Pro414Leu
XR_001740634.1:n.1613-1243G>A
NM_000404.4:c.1097C>T MANE Select	NP_000395.3:p.Pro366Leu
NM_001079811.3:c.1007C>T	NP_001073279.2:p.Pro336Leu
NM_001135602.3:c.704C>T	NP_001129074.2:p.Pro235Leu
NM_001317040.2:c.1241C>T	NP_001303969.2:p.Pro414Leu
NM_001393580.1:c.1097C>T	NP_001380509.1:p.Pro366Leu