Canonical Allele Identifier: CA6237083

Gene: AMOTL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94800278G>A , CM000673.2:g.94800278G>A	GRCh38
NC_000011.9:g.94533444G>A , CM000673.1:g.94533444G>A	GRCh37
NC_000011.8:g.94173092G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_130847.3:c.1088G>A MANE Select	NP_570899.1:p.Arg363Gln
ENST00000433060.3:c.1088G>A MANE Select	ENSP00000387739.2:p.Arg363Gln
NM_001301007.1:c.938G>A	NP_001287936.1:p.Arg313Gln
NM_001301007.2:c.938G>A	NP_001287936.1:p.Arg313Gln
NM_130847.2:c.1088G>A	NP_570899.1:p.Arg363Gln
ENST00000317829.12:c.938G>A	ENSP00000320968.8:p.Arg313Gln
ENST00000433060.2:c.1088G>A	ENSP00000387739.2:p.Arg363Gln
XM_005273798.3:c.1175G>A	XP_005273855.1:p.Arg392Gln
XM_005273798.4:c.1175G>A	XP_005273855.1:p.Arg392Gln
XM_005273801.3:c.830G>A	XP_005273858.1:p.Arg277Gln
XM_005273801.4:c.830G>A	XP_005273858.1:p.Arg277Gln
XM_006718772.2:c.1175G>A	XP_006718835.1:p.Arg392Gln
XM_006718772.3:c.1175G>A	XP_006718835.1:p.Arg392Gln
XM_011542626.1:c.1025G>A	XP_011540928.1:p.Arg342Gln
XM_011542626.2:c.1025G>A	XP_011540928.1:p.Arg342Gln
XM_011542627.1:c.830G>A	XP_011540929.1:p.Arg277Gln