Canonical Allele Identifier: CA542171621

Gene: GLB1

Linked Data

• dbSNP Id: rs1437182282
• gnomAD v2: 3-33059900-C-A
• gnomAD v3: 3-33018408-C-A
• gnomAD v4: 3-33018408-C-A
• MyVariant Identifiers: chr3:g.33059900C>A (hg19) ; chr3:g.33018408C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33018408C>A , CM000665.2:g.33018408C>A	GRCh38
NC_000003.11:g.33059900C>A , CM000665.1:g.33059900C>A	GRCh37
NC_000003.10:g.33034904C>A	NCBI36
NG_009005.1:g.83795G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.1347+40G>T MANE Select	ENSP00000306920.4:n.1347+40G>T
ENST00000307363.9:c.1347+40G>T	ENSP00000306920.4:n.1347+40G>T
ENST00000307377.12:c.954+40G>T	ENSP00000305920.8:n.954+40G>T
ENST00000399402.7:c.1257+40G>T	ENSP00000382333.2:n.1257+40G>T
ENST00000461475.5:n.446+40G>T
ENST00000467571.5:n.384+40G>T
ENST00000497796.5:n.599+40G>T
NM_000404.2:c.1347+40G>T	NP_000395.2:n.1347+40G>T
NM_000404.3:c.1347+40G>T	NP_000395.2:n.1347+40G>T
NM_001079811.1:c.1257+40G>T	NP_001073279.1:n.1257+40G>T
NM_001079811.2:c.1257+40G>T	NP_001073279.1:n.1257+40G>T
NM_001135602.1:c.954+40G>T	NP_001129074.1:n.954+40G>T
NM_001135602.2:c.954+40G>T	NP_001129074.1:n.954+40G>T
NM_001317040.1:c.1491+40G>T	NP_001303969.1:n.1491+40G>T
NM_000404.4:c.1347+40G>T MANE Select	NP_000395.3:n.1347+40G>T
NM_001079811.3:c.1257+40G>T	NP_001073279.2:n.1257+40G>T
NM_001135602.3:c.954+40G>T	NP_001129074.2:n.954+40G>T
NM_001317040.2:c.1491+40G>T	NP_001303969.2:n.1491+40G>T
NM_001393580.1:c.1347+40G>T	NP_001380509.1:n.1347+40G>T