Canonical Allele Identifier: CA351046420

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183390A>C (hg19) ; chr2:g.233274744A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274744A>C , CM000664.2:g.233274744A>C	GRCh38
NC_000002.11:g.234183390A>C , CM000664.1:g.234183390A>C	GRCh37
NC_000002.10:g.233848129A>C	NCBI36
NG_023038.1:g.28174A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.920A>C MANE Select	ENSP00000375872.4:p.Glu307Ala
ENST00000347464.9:c.431A>C	ENSP00000318259.6:p.Glu144Ala
ENST00000373525.9:c.488A>C	ENSP00000362625.5:p.Glu163Ala
ENST00000392017.8:c.920A>C	ENSP00000375872.4:p.Glu307Ala
ENST00000392018.1:c.971A>C	ENSP00000375873.1:p.Glu324Ala
ENST00000392020.8:c.863A>C	ENSP00000375875.4:p.Glu288Ala
ENST00000392021.7:c.*801A>C	ENSP00000375876.3:n.*801A>C
ENST00000419681.5:c.431A>C	ENSP00000398773.1:p.Glu144Ala
ENST00000474148.5:n.1715A>C
ENST00000479942.5:n.1066A>C
ENST00000492298.5:n.441A>C
ENST00000498620.5:n.427A>C
NM_001190266.1:c.668A>C	NP_001177195.1:p.Glu223Ala
NM_001190267.1:c.572A>C	NP_001177196.1:p.Glu191Ala
NM_017974.3:c.863A>C	NP_060444.3:p.Glu288Ala
NM_030803.6:c.920A>C	NP_110430.5:p.Glu307Ala
NM_198890.2:c.431A>C	NP_942593.2:p.Glu144Ala
XM_005246082.1:c.971A>C	XP_005246139.1:p.Glu324Ala
XM_005246084.1:c.539A>C	XP_005246141.1:p.Glu180Ala
XM_005246086.1:c.488A>C	XP_005246143.1:p.Glu163Ala
XM_006712608.1:c.719A>C	XP_006712671.1:p.Glu240Ala
XR_241242.1:n.1165A>C
NM_001363742.1:c.971A>C	NP_001350671.1:p.Glu324Ala
XM_005246084.2:c.539A>C	XP_005246141.1:p.Glu180Ala
XM_005246086.2:c.488A>C	XP_005246143.1:p.Glu163Ala
XM_006712608.3:c.719A>C	XP_006712671.1:p.Glu240Ala
XR_001738801.2:n.1101A>C
XR_241242.3:n.1152A>C
NM_030803.7:c.920A>C MANE Select	NP_110430.5:p.Glu307Ala
NM_001190266.2:c.668A>C	NP_001177195.1:p.Glu223Ala
NM_001190267.2:c.572A>C	NP_001177196.1:p.Glu191Ala
NM_001363742.2:c.971A>C	NP_001350671.1:p.Glu324Ala
NM_017974.4:c.863A>C	NP_060444.3:p.Glu288Ala
NM_198890.3:c.431A>C	NP_942593.2:p.Glu144Ala