Canonical Allele Identifier: CA2731523414

Gene: AGBL1

Linked Data

• dbSNP Id: rs2142197204

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.86520870C>T , CM000677.2:g.86520870C>T	GRCh38
NC_000015.9:g.87064101C>T , CM000677.1:g.87064101C>T	GRCh37
NC_000015.8:g.84865105C>T	NCBI36
NG_033836.1:g.383860C>T
NG_033836.2:g.446063C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000441037.7:c.2556-1940C>T	ENSP00000413001.3:n.2556-1940C>T
ENST00000614907.3:c.2556-1940C>T MANE Select	ENSP00000490608.2:n.2556-1940C>T
ENST00000421325.3:c.2418-1940C>T	ENSP00000397173.3:n.2418-1940C>T
ENST00000441037.6:c.2418-1940C>T	ENSP00000413001.2:n.2418-1940C>T
NM_152336.2:c.2418-1940C>T	NP_689549.2:n.2418-1940C>T
XM_011521226.1:c.2556-1940C>T	XP_011519528.1:n.2556-1940C>T
XM_011521227.1:c.2556-1940C>T	XP_011519529.1:n.2556-1940C>T
XR_931750.1:n.2597-1940C>T
NM_152336.3:c.2556-1940C>T	NP_689549.3:n.2556-1940C>T
XM_011521226.3:c.2556-1940C>T	XP_011519528.1:n.2556-1940C>T
XM_011521227.3:c.2556-1940C>T	XP_011519529.1:n.2556-1940C>T
XM_017021918.2:c.2523-1940C>T	XP_016877407.1:n.2523-1940C>T
XM_017021919.2:c.2472-1940C>T	XP_016877408.1:n.2472-1940C>T
XR_931750.3:n.2745-1940C>T
NM_152336.4:c.2556-1940C>T	NP_689549.3:n.2556-1940C>T
NM_001386094.1:c.2556-1940C>T MANE Select	NP_001373023.1:n.2556-1940C>T