Canonical Allele Identifier: CA2299559

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051799C>A , CM000665.2:g.33051799C>A	GRCh38
NC_000003.11:g.33093291C>A , CM000665.1:g.33093291C>A	GRCh37
NC_000003.10:g.33068295C>A	NCBI36
NG_009005.1:g.50404G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.915-1G>T MANE Select	NP_000395.3:n.915-1G>T
ENST00000307363.10:c.915-1G>T MANE Select	ENSP00000306920.4:n.915-1G>T
NM_000404.2:c.915-1G>T	NP_000395.2:n.915-1G>T
NM_000404.3:c.915-1G>T	NP_000395.2:n.915-1G>T
NM_001079811.1:c.825-1G>T	NP_001073279.1:n.825-1G>T
NM_001079811.2:c.825-1G>T	NP_001073279.1:n.825-1G>T
NM_001079811.3:c.825-1G>T	NP_001073279.2:n.825-1G>T
NM_001135602.1:c.522-1G>T	NP_001129074.1:n.522-1G>T
NM_001135602.2:c.522-1G>T	NP_001129074.1:n.522-1G>T
NM_001135602.3:c.522-1G>T	NP_001129074.2:n.522-1G>T
NM_001317040.1:c.1059-1G>T	NP_001303969.1:n.1059-1G>T
NM_001317040.2:c.1059-1G>T	NP_001303969.2:n.1059-1G>T
NM_001393580.1:c.915-1G>T	NP_001380509.1:n.915-1G>T
ENST00000307363.9:c.915-1G>T	ENSP00000306920.4:n.915-1G>T
ENST00000307377.12:c.522-1G>T	ENSP00000305920.8:n.522-1G>T
ENST00000399402.7:c.825-1G>T	ENSP00000382333.2:n.825-1G>T
ENST00000415454.1:c.438-1G>T	ENSP00000411813.1:n.438-1G>T
ENST00000482097.5:n.290-1G>T
ENST00000485698.5:n.318-1G>T
ENST00000498537.5:n.441-1G>T