Canonical Allele Identifier: CA7715508

Gene: AGBL1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.86256923C>T , CM000677.2:g.86256923C>T	GRCh38
NC_000015.9:g.86800154C>T , CM000677.1:g.86800154C>T	GRCh37
NC_000015.8:g.84601158C>T	NCBI36
NG_033836.1:g.119913C>T
NG_033836.2:g.182116C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001386094.1:c.806C>T MANE Select	NP_001373023.1:p.Pro269Leu
ENST00000614907.3:c.806C>T MANE Select	ENSP00000490608.2:p.Pro269Leu
NM_152336.2:c.668C>T	NP_689549.2:p.Pro223Leu
NM_152336.3:c.806C>T	NP_689549.3:p.Pro269Leu
NM_152336.4:c.806C>T	NP_689549.3:p.Pro269Leu
ENST00000421325.3:c.668C>T	ENSP00000397173.3:p.Pro223Leu
ENST00000441037.6:c.668C>T	ENSP00000413001.2:p.Pro223Leu
ENST00000441037.7:c.806C>T	ENSP00000413001.3:p.Pro269Leu
XM_011521226.1:c.806C>T	XP_011519528.1:p.Pro269Leu
XM_011521226.3:c.806C>T	XP_011519528.1:p.Pro269Leu
XM_011521227.1:c.806C>T	XP_011519529.1:p.Pro269Leu
XM_011521227.3:c.806C>T	XP_011519529.1:p.Pro269Leu
XM_011521228.1:c.806C>T	XP_011519530.1:p.Pro269Leu
XM_011521228.3:c.806C>T	XP_011519530.1:p.Pro269Leu
XM_011521229.1:c.806C>T	XP_011519531.1:p.Pro269Leu
XM_011521230.1:c.806C>T	XP_011519532.1:p.Pro269Leu
XM_011521230.3:c.806C>T	XP_011519532.1:p.Pro269Leu
XM_017021918.2:c.806C>T	XP_016877407.1:p.Pro269Leu
XM_017021919.2:c.806C>T	XP_016877408.1:p.Pro269Leu
XM_017021920.2:c.806C>T	XP_016877409.1:p.Pro269Leu
XM_017021921.2:c.806C>T	XP_016877410.1:p.Pro269Leu
XR_931750.1:n.992C>T
XR_931750.3:n.1140C>T
XR_931751.1:n.992C>T
XR_931751.3:n.1140C>T