Canonical Allele Identifier: CA2193223225

Gene: AGBL1

Linked Data

• dbSNP Id: rs2011905

Genomic Alleles

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

Transcript Alleles

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