Canonical Allele Identifier: CA2193223224
Community Standard Title: NM_001386094.1(AGBL1):c.2556-12195G=
Gene: AGBL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.86510615G= , CM000677.2:g.86510615G= GRCh38
NC_000015.9:g.87053846G= , CM000677.1:g.87053846G= GRCh37
NC_000015.8:g.84854850G= NCBI36
NG_033836.1:g.373605G=
NG_033836.2:g.435808G=

Transcript Alleles

HGVS Amino-acid Change
NM_001386094.1:c.2556-12195G= MANE Select NP_001373023.1:n.2556-12195G=
ENST00000614907.3:c.2556-12195G= MANE Select ENSP00000490608.2:n.2556-12195G=
NM_152336.2:c.2418-12195G= NP_689549.2:n.2418-12195G=
NM_152336.3:c.2556-12195G= NP_689549.3:n.2556-12195G=
NM_152336.4:c.2556-12195G= NP_689549.3:n.2556-12195G=
ENST00000421325.3:c.2418-12195G= ENSP00000397173.3:n.2418-12195G=
ENST00000441037.6:c.2418-12195G= ENSP00000413001.2:n.2418-12195G=
ENST00000441037.7:c.2556-12195G= ENSP00000413001.3:n.2556-12195G=
XM_011521226.1:c.2556-12195G= XP_011519528.1:n.2556-12195G=
XM_011521226.3:c.2556-12195G= XP_011519528.1:n.2556-12195G=
XM_011521227.1:c.2556-12195G= XP_011519529.1:n.2556-12195G=
XM_011521227.3:c.2556-12195G= XP_011519529.1:n.2556-12195G=
XM_017021918.2:c.2523-12195G= XP_016877407.1:n.2523-12195G=
XM_017021919.2:c.2472-12195G= XP_016877408.1:n.2472-12195G=
XR_931750.1:n.2597-12195G=
XR_931750.3:n.2745-12195G=