Canonical Allele Identifier: CA645372383

Gene: GLB1

Linked Data

• PubMed: PMID:24156116

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.[33018510G>A;33024297G>T] , CM000665.2:g.[33018510G>A;33024297G>T]	GRCh38
NC_000003.11:g.[33060002G>A;33065789G>T] , CM000665.1:g.[33060002G>A;33065789G>T]	GRCh37
NC_000003.10:g.[33035006G>A;33040793G>T]	NCBI36
NG_009005.1:g.[77906C>A;83693C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.[1097C>A;1285C>T] MANE Select	ENSP00000306920.4:p.[Pro366His;Pro429Ser]
ENST00000307363.9:c.[1097C>A;1285C>T]	ENSP00000306920.4:p.[Pro366His;Pro429Ser]
ENST00000307377.12:c.[704C>A;892C>T]	ENSP00000305920.8:p.[Pro235His;Pro298Ser]
ENST00000399402.7:c.[1007C>A;1195C>T]	ENSP00000382333.2:p.[Pro336His;Pro399Ser]
ENST00000461475.5:n.[196C>A;384C>T]
ENST00000467571.5:n.[134C>A;322C>T]
ENST00000497796.5:n.[349C>A;537C>T]
NM_000404.2:c.[1097C>A;1285C>T]	NP_000395.2:p.[Pro366His;Pro429Ser]
NM_000404.3:c.[1097C>A;1285C>T]	NP_000395.2:p.[Pro366His;Pro429Ser]
NM_001079811.1:c.[1007C>A;1195C>T]	NP_001073279.1:p.[Pro336His;Pro399Ser]
NM_001079811.2:c.[1007C>A;1195C>T]	NP_001073279.1:p.[Pro336His;Pro399Ser]
NM_001135602.1:c.[704C>A;892C>T]	NP_001129074.1:p.[Pro235His;Pro298Ser]
NM_001135602.2:c.[704C>A;892C>T]	NP_001129074.1:p.[Pro235His;Pro298Ser]
NM_001317040.1:c.[1241C>A;1429C>T]	NP_001303969.1:p.[Pro414His;Pro477Ser]
NM_000404.4:c.[1097C>A;1285C>T] MANE Select	NP_000395.3:p.[Pro366His;Pro429Ser]
NM_001079811.3:c.[1007C>A;1195C>T]	NP_001073279.2:p.[Pro336His;Pro399Ser]
NM_001135602.3:c.[704C>A;892C>T]	NP_001129074.2:p.[Pro235His;Pro298Ser]
NM_001317040.2:c.[1241C>A;1429C>T]	NP_001303969.2:p.[Pro414His;Pro477Ser]
NM_001393580.1:c.[1097C>A;1285C>T]	NP_001380509.1:p.[Pro366His;Pro429Ser]