Canonical Allele Identifier: CA2299508

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33024329T>C , CM000665.2:g.33024329T>C	GRCh38
NC_000003.11:g.33065821T>C , CM000665.1:g.33065821T>C	GRCh37
NC_000003.10:g.33040825T>C	NCBI36
NG_009005.1:g.77874A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1069-4A>G MANE Select	NP_000395.3:n.1069-4A>G
ENST00000307363.10:c.1069-4A>G MANE Select	ENSP00000306920.4:n.1069-4A>G
NM_000404.2:c.1069-4A>G	NP_000395.2:n.1069-4A>G
NM_000404.3:c.1069-4A>G	NP_000395.2:n.1069-4A>G
NM_001079811.1:c.979-4A>G	NP_001073279.1:n.979-4A>G
NM_001079811.2:c.979-4A>G	NP_001073279.1:n.979-4A>G
NM_001079811.3:c.979-4A>G	NP_001073279.2:n.979-4A>G
NM_001135602.1:c.676-4A>G	NP_001129074.1:n.676-4A>G
NM_001135602.2:c.676-4A>G	NP_001129074.1:n.676-4A>G
NM_001135602.3:c.676-4A>G	NP_001129074.2:n.676-4A>G
NM_001317040.1:c.1213-4A>G	NP_001303969.1:n.1213-4A>G
NM_001317040.2:c.1213-4A>G	NP_001303969.2:n.1213-4A>G
NM_001393580.1:c.1069-4A>G	NP_001380509.1:n.1069-4A>G
ENST00000307363.9:c.1069-4A>G	ENSP00000306920.4:n.1069-4A>G
ENST00000307377.12:c.676-4A>G	ENSP00000305920.8:n.676-4A>G
ENST00000399402.7:c.979-4A>G	ENSP00000382333.2:n.979-4A>G
ENST00000461475.5:n.168-4A>G
ENST00000467571.5:n.106-4A>G
ENST00000473477.1:n.97A>G
ENST00000482097.5:n.444-4A>G
ENST00000485698.5:n.472-4A>G
ENST00000497796.5:n.321-4A>G
XR_001740634.1:n.1613-1211T>C