Canonical Allele Identifier: CA351999452

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33046206G>A , CM000665.2:g.33046206G>A	GRCh38
NC_000003.11:g.33087698G>A , CM000665.1:g.33087698G>A	GRCh37
NC_000003.10:g.33062702G>A	NCBI36
NG_009005.1:g.55997C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.982C>T MANE Select	NP_000395.3:p.Pro328Ser
ENST00000307363.10:c.982C>T MANE Select	ENSP00000306920.4:p.Pro328Ser
NM_000404.2:c.982C>T	NP_000395.2:p.Pro328Ser
NM_000404.3:c.982C>T	NP_000395.2:p.Pro328Ser
NM_001079811.1:c.892C>T	NP_001073279.1:p.Pro298Ser
NM_001079811.2:c.892C>T	NP_001073279.1:p.Pro298Ser
NM_001079811.3:c.892C>T	NP_001073279.2:p.Pro298Ser
NM_001135602.1:c.589C>T	NP_001129074.1:p.Pro197Ser
NM_001135602.2:c.589C>T	NP_001129074.1:p.Pro197Ser
NM_001135602.3:c.589C>T	NP_001129074.2:p.Pro197Ser
NM_001317040.1:c.1126C>T	NP_001303969.1:p.Pro376Ser
NM_001317040.2:c.1126C>T	NP_001303969.2:p.Pro376Ser
NM_001393580.1:c.982C>T	NP_001380509.1:p.Pro328Ser
ENST00000307363.9:c.982C>T	ENSP00000306920.4:p.Pro328Ser
ENST00000307377.12:c.589C>T	ENSP00000305920.8:p.Pro197Ser
ENST00000399402.7:c.892C>T	ENSP00000382333.2:p.Pro298Ser
ENST00000415454.1:c.505C>T	ENSP00000411813.1:p.Pro169Ser
ENST00000482097.5:n.357C>T
ENST00000485698.5:n.385C>T
ENST00000498537.5:n.508C>T