Canonical Allele Identifier: CA351997123
Community Standard Title: NM_000404.4(GLB1):c.76-1G>T
Gene: GLB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33072714C>A , CM000665.2:g.33072714C>A GRCh38
NC_000003.11:g.33114206C>A , CM000665.1:g.33114206C>A GRCh37
NC_000003.10:g.33089210C>A NCBI36
NG_009005.1:g.29489G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000404.4:c.76-1G>T MANE Select NP_000395.3:n.76-1G>T
ENST00000307363.10:c.76-1G>T MANE Select ENSP00000306920.4:n.76-1G>T
NM_000404.2:c.76-1G>T NP_000395.2:n.76-1G>T
NM_000404.3:c.76-1G>T NP_000395.2:n.76-1G>T
NM_001079811.1:c.-15-1G>T NP_001073279.1:n.-15-1G>T
NM_001079811.2:c.-15-1G>T NP_001073279.1:n.-15-1G>T
NM_001079811.3:c.-15-1G>T NP_001073279.2:n.-15-1G>T
NM_001135602.1:c.76-1G>T NP_001129074.1:n.76-1G>T
NM_001135602.2:c.76-1G>T NP_001129074.1:n.76-1G>T
NM_001135602.3:c.76-1G>T NP_001129074.2:n.76-1G>T
NM_001317040.1:c.220-1G>T NP_001303969.1:n.220-1G>T
NM_001317040.2:c.220-1G>T NP_001303969.2:n.220-1G>T
NM_001393580.1:c.76-1G>T NP_001380509.1:n.76-1G>T
ENST00000307363.9:c.76-1G>T ENSP00000306920.4:n.76-1G>T
ENST00000307377.12:c.76-1G>T ENSP00000305920.8:n.76-1G>T
ENST00000399402.7:c.-15-1G>T ENSP00000382333.2:n.-15-1G>T
ENST00000415454.1:c.76-14445G>T ENSP00000411813.1:n.76-14445G>T
ENST00000436768.1:c.220-1G>T ENSP00000387989.1:n.220-1G>T
ENST00000438227.1:c.76-7157G>T ENSP00000401250.1:n.76-7157G>T
ENST00000440656.1:c.-148-3744G>T ENSP00000411769.1:n.-148-3744G>T
ENST00000446732.5:c.-16G>T ENSP00000407365.1:n.-16G>T
ENST00000450835.1:c.-15-1G>T ENSP00000403264.1:n.-15-1G>T
ENST00000464355.1:n.34-1G>T
ENST00000482097.5:n.109-19165G>T
ENST00000485698.5:n.137-19165G>T
ENST00000498537.5:n.133-19165G>T