Canonical Allele Identifier: CA6237083
Gene: AMOTL1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.94800278G>A
GRCh37 chr11:g.94533444G>A
Revel Score:
ENST00000317829 0.138
ENST00000542840 0.138
ENST00000317837 0.138
ENST00000433060 (MANE Select) 0.138
gnomAD v2:
11:94533444 G / A
gnomAD v3:
11:94800278 G / A
gnomAD v4:
chr11-94800278-G-A
Joint Max Group AF 0.00751808 (NFE)
Genomes Max Group AF 0.00835037 (NFE)
Exomes Max Group AF 0.00743596 (NFE)
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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
ENST00000433060.3:c.1088G>A MANE Select ENSP00000387739.2:p.Arg363Gln
ENST00000317829.12:c.938G>A ENSP00000320968.8:p.Arg313Gln
ENST00000433060.2:c.1088G>A ENSP00000387739.2:p.Arg363Gln
NM_001301007.1:c.938G>A NP_001287936.1:p.Arg313Gln
NM_130847.2:c.1088G>A NP_570899.1:p.Arg363Gln
XM_005273798.3:c.1175G>A XP_005273855.1:p.Arg392Gln
XM_005273801.3:c.830G>A XP_005273858.1:p.Arg277Gln
XM_006718772.2:c.1175G>A XP_006718835.1:p.Arg392Gln
XM_011542626.1:c.1025G>A XP_011540928.1:p.Arg342Gln
XM_011542627.1:c.830G>A XP_011540929.1:p.Arg277Gln
XM_005273798.4:c.1175G>A XP_005273855.1:p.Arg392Gln
XM_005273801.4:c.830G>A XP_005273858.1:p.Arg277Gln
XM_006718772.3:c.1175G>A XP_006718835.1:p.Arg392Gln
XM_011542626.2:c.1025G>A XP_011540928.1:p.Arg342Gln
NM_130847.3:c.1088G>A MANE Select NP_570899.1:p.Arg363Gln
NM_001301007.2:c.938G>A NP_001287936.1:p.Arg313Gln
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