Canonical Allele Identifier: CA22393818
Gene: AGBL4 HGNC NCBI
AGBL4-IT1 HGNC NCBI

Linked Data

dbSNP Id: rs1017699498
MyVariant Identifiers: chr1:g.49465012T>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.49465012T>G , CM000663.2:g.49465012T>G GRCh38
NC_000001.10:g.49930684T>G , CM000663.1:g.49930684T>G GRCh37
NC_000001.9:g.49703271T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000371839.6:c.283-219148A>C (AGBL4) MANE Select ENSP00000360905.1:n.283-219148A>C
ENST00000371836.1:c.283-219148A>C (AGBL4) ENSP00000360902.1:n.283-219148A>C
ENST00000371838.5:c.283-219148A>C (AGBL4) ENSP00000360904.1:n.283-219148A>C
ENST00000371839.5:c.283-219148A>C (AGBL4) ENSP00000360905.1:n.283-219148A>C
NM_032785.3:c.283-219148A>C (AGBL4) NP_116174.3:n.283-219148A>C
NR_046839.1:n.298+4787A>C (AGBL4-IT1)
XM_006710986.2:c.283-219148A>C (AGBL4) XP_006711049.1:n.283-219148A>C
XM_011542308.1:c.319-219148A>C (AGBL4) XP_011540610.1:n.319-219148A>C
XM_011542309.1:c.319-219148A>C (AGBL4) XP_011540611.1:n.319-219148A>C
XM_011542310.1:c.319-219148A>C (AGBL4) XP_011540612.1:n.319-219148A>C
XM_011542311.1:c.319-219148A>C (AGBL4) XP_011540613.1:n.319-219148A>C
NM_001323573.1:c.319-219148A>C (AGBL4) NP_001310502.1:n.319-219148A>C
NM_001323574.1:c.319-219148A>C (AGBL4) NP_001310503.1:n.319-219148A>C
NM_001323575.1:c.283-219148A>C (AGBL4) NP_001310504.1:n.283-219148A>C
NR_136623.1:n.316-219148A>C (AGBL4)
XM_011542308.2:c.319-219148A>C (AGBL4) XP_011540610.1:n.319-219148A>C
XM_011542310.2:c.319-219148A>C (AGBL4) XP_011540612.1:n.319-219148A>C
XM_017002595.2:c.283-219148A>C (AGBL4) XP_016858084.1:n.283-219148A>C
XM_017002596.2:c.283-219148A>C (AGBL4) XP_016858085.1:n.283-219148A>C
XM_017002597.2:c.283-219148A>C (AGBL4) XP_016858086.1:n.283-219148A>C
XM_017002598.2:c.283-219148A>C (AGBL4) XP_016858087.1:n.283-219148A>C
XM_024450399.1:c.319-219148A>C (AGBL4) XP_024306167.1:n.319-219148A>C
NM_032785.4:c.283-219148A>C (AGBL4) MANE Select NP_116174.3:n.283-219148A>C
NM_001323573.2:c.319-219148A>C (AGBL4) NP_001310502.1:n.319-219148A>C
NM_001323574.2:c.319-219148A>C (AGBL4) NP_001310503.1:n.319-219148A>C
NM_001323575.2:c.283-219148A>C (AGBL4) NP_001310504.1:n.283-219148A>C
NR_136623.2:n.316-219148A>C (AGBL4)