Canonical Allele Identifier: CA1355976999

Gene: GLB1

Linked Data

• ClinVar Variation Id: 1092402
• ClinVar RCV Id: RCV001412232
• dbSNP Id: rs1696352317
• gnomAD v4: 3-32997352-G-GAGAGAGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997358_32997365dup , CM000665.2:g.32997358_32997365dup	GRCh38
NC_000003.11:g.33038850_33038857dup , CM000665.1:g.33038850_33038857dup	GRCh37
NC_000003.10:g.33013854_33013861dup	NCBI36
NG_009005.1:g.104843_104850dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1735-16_1735-9dup MANE Select	ENSP00000306920.4:n.1735-16_1735-9dup
ENST00000307363.9:c.1735-16_1735-9dup	ENSP00000306920.4:n.1735-16_1735-9dup
ENST00000307377.12:c.1342-16_1342-9dup	ENSP00000305920.8:n.1342-16_1342-9dup
ENST00000399402.7:c.1645-16_1645-9dup	ENSP00000382333.2:n.1645-16_1645-9dup
NM_000404.2:c.1735-16_1735-9dup	NP_000395.2:n.1735-16_1735-9dup
NM_000404.3:c.1735-16_1735-9dup	NP_000395.2:n.1735-16_1735-9dup
NM_001079811.1:c.1645-16_1645-9dup	NP_001073279.1:n.1645-16_1645-9dup
NM_001079811.2:c.1645-16_1645-9dup	NP_001073279.1:n.1645-16_1645-9dup
NM_001135602.1:c.1342-16_1342-9dup	NP_001129074.1:n.1342-16_1342-9dup
NM_001135602.2:c.1342-16_1342-9dup	NP_001129074.1:n.1342-16_1342-9dup
NM_001317040.1:c.1879-16_1879-9dup	NP_001303969.1:n.1879-16_1879-9dup
NM_000404.4:c.1735-16_1735-9dup MANE Select	NP_000395.3:n.1735-16_1735-9dup
NM_001079811.3:c.1645-16_1645-9dup	NP_001073279.2:n.1645-16_1645-9dup
NM_001135602.3:c.1342-16_1342-9dup	NP_001129074.2:n.1342-16_1342-9dup
NM_001317040.2:c.1879-16_1879-9dup	NP_001303969.2:n.1879-16_1879-9dup
NM_001393580.1:c.1734+16696_1734+16703dup	NP_001380509.1:n.1734+16696_1734+16703dup