Canonical Allele Identifier: CA351046338

Gene: ATG16L1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274722A>T , CM000664.2:g.233274722A>T	GRCh38
NC_000002.11:g.234183368A>T , CM000664.1:g.234183368A>T	GRCh37
NC_000002.10:g.233848107A>T	NCBI36
NG_023038.1:g.28152A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.898A>T MANE Select	ENSP00000375872.4:p.Thr300Ser
ENST00000347464.9:c.409A>T	ENSP00000318259.6:p.Thr137Ser
ENST00000373525.9:c.466A>T	ENSP00000362625.5:p.Thr156Ser
ENST00000392017.8:c.898A>T	ENSP00000375872.4:p.Thr300Ser
ENST00000392018.1:c.949A>T	ENSP00000375873.1:p.Thr317Ser
ENST00000392020.8:c.841A>T	ENSP00000375875.4:p.Thr281Ser
ENST00000392021.7:c.*779A>T	ENSP00000375876.3:n.*779A>T
ENST00000419681.5:c.409A>T	ENSP00000398773.1:p.Thr137Ser
ENST00000444735.5:c.517A>T	ENSP00000409215.1:p.Thr173Ser
ENST00000474148.5:n.1693A>T
ENST00000479942.5:n.1044A>T
ENST00000492298.5:n.419A>T
ENST00000498620.5:n.405A>T
NM_001190266.1:c.646A>T	NP_001177195.1:p.Thr216Ser
NM_001190267.1:c.550A>T	NP_001177196.1:p.Thr184Ser
NM_017974.3:c.841A>T	NP_060444.3:p.Thr281Ser
NM_030803.6:c.898A>T	NP_110430.5:p.Thr300Ser
NM_198890.2:c.409A>T	NP_942593.2:p.Thr137Ser
XM_005246082.1:c.949A>T	XP_005246139.1:p.Thr317Ser
XM_005246084.1:c.517A>T	XP_005246141.1:p.Thr173Ser
XM_005246086.1:c.466A>T	XP_005246143.1:p.Thr156Ser
XM_006712608.1:c.697A>T	XP_006712671.1:p.Thr233Ser
XR_241242.1:n.1143A>T
NM_001363742.1:c.949A>T	NP_001350671.1:p.Thr317Ser
XM_005246084.2:c.517A>T	XP_005246141.1:p.Thr173Ser
XM_005246086.2:c.466A>T	XP_005246143.1:p.Thr156Ser
XM_006712608.3:c.697A>T	XP_006712671.1:p.Thr233Ser
XR_001738801.2:n.1079A>T
XR_241242.3:n.1130A>T
NM_030803.7:c.898A>T MANE Select	NP_110430.5:p.Thr300Ser
NM_001190266.2:c.646A>T	NP_001177195.1:p.Thr216Ser
NM_001190267.2:c.550A>T	NP_001177196.1:p.Thr184Ser
NM_001363742.2:c.949A>T	NP_001350671.1:p.Thr317Ser
NM_017974.4:c.841A>T	NP_060444.3:p.Thr281Ser
NM_198890.3:c.409A>T	NP_942593.2:p.Thr137Ser