Canonical Allele Identifier: CA2841360459
Gene: AGBL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.86520890G>T , CM000677.2:g.86520890G>T GRCh38
NC_000015.9:g.87064121G>T , CM000677.1:g.87064121G>T GRCh37
NC_000015.8:g.84865125G>T NCBI36
NG_033836.1:g.383880G>T
NG_033836.2:g.446083G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000441037.7:c.2556-1920G>T ENSP00000413001.3:n.2556-1920G>T
ENST00000614907.3:c.2556-1920G>T MANE Select ENSP00000490608.2:n.2556-1920G>T
ENST00000421325.3:c.2418-1920G>T ENSP00000397173.3:n.2418-1920G>T
ENST00000441037.6:c.2418-1920G>T ENSP00000413001.2:n.2418-1920G>T
NM_152336.2:c.2418-1920G>T NP_689549.2:n.2418-1920G>T
XM_011521226.1:c.2556-1920G>T XP_011519528.1:n.2556-1920G>T
XM_011521227.1:c.2556-1920G>T XP_011519529.1:n.2556-1920G>T
XR_931750.1:n.2597-1920G>T
NM_152336.3:c.2556-1920G>T NP_689549.3:n.2556-1920G>T
XM_011521226.3:c.2556-1920G>T XP_011519528.1:n.2556-1920G>T
XM_011521227.3:c.2556-1920G>T XP_011519529.1:n.2556-1920G>T
XM_017021918.2:c.2523-1920G>T XP_016877407.1:n.2523-1920G>T
XM_017021919.2:c.2472-1920G>T XP_016877408.1:n.2472-1920G>T
XR_931750.3:n.2745-1920G>T
NM_152336.4:c.2556-1920G>T NP_689549.3:n.2556-1920G>T
NM_001386094.1:c.2556-1920G>T MANE Select NP_001373023.1:n.2556-1920G>T