Canonical Allele Identifier: CA351046155

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183322G>C (hg19) ; chr2:g.233274676G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274676G>C , CM000664.2:g.233274676G>C	GRCh38
NC_000002.11:g.234183322G>C , CM000664.1:g.234183322G>C	GRCh37
NC_000002.10:g.233848061G>C	NCBI36
NG_023038.1:g.28106G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000392017.9:c.852G>C MANE Select	ENSP00000375872.4:p.Gly284=
ENST00000347464.9:c.363G>C	ENSP00000318259.6:p.Thr121=
ENST00000373525.9:c.420G>C	ENSP00000362625.5:p.Gly140=
ENST00000392017.8:c.852G>C	ENSP00000375872.4:p.Gly284=
ENST00000392018.1:c.903G>C	ENSP00000375873.1:p.Arg301Ser
ENST00000392020.8:c.795G>C	ENSP00000375875.4:p.Thr265=
ENST00000392021.7:c.*733G>C	ENSP00000375876.3:n.*733G>C
ENST00000419681.5:c.363G>C	ENSP00000398773.1:p.Thr121=
ENST00000444735.5:c.471G>C	ENSP00000409215.1:p.Arg157Ser
ENST00000474148.5:n.1647G>C
ENST00000479942.5:n.998G>C
ENST00000492298.5:n.373G>C
ENST00000498620.5:n.359G>C
NM_001190266.1:c.600G>C	NP_001177195.1:p.Gly200=
NM_001190267.1:c.504G>C	NP_001177196.1:p.Gly168=
NM_017974.3:c.795G>C	NP_060444.3:p.Thr265=
NM_030803.6:c.852G>C	NP_110430.5:p.Gly284=
NM_198890.2:c.363G>C	NP_942593.2:p.Thr121=
XM_005246082.1:c.903G>C	XP_005246139.1:p.Arg301Ser
XM_005246084.1:c.471G>C	XP_005246141.1:p.Arg157Ser
XM_005246086.1:c.420G>C	XP_005246143.1:p.Gly140=
XM_006712608.1:c.651G>C	XP_006712671.1:p.Arg217Ser
XR_241242.1:n.1097G>C
NM_001363742.1:c.903G>C	NP_001350671.1:p.Arg301Ser
XM_005246084.2:c.471G>C	XP_005246141.1:p.Arg157Ser
XM_005246086.2:c.420G>C	XP_005246143.1:p.Gly140=
XM_006712608.3:c.651G>C	XP_006712671.1:p.Arg217Ser
XR_001738801.2:n.1033G>C
XR_241242.3:n.1084G>C
NM_030803.7:c.852G>C MANE Select	NP_110430.5:p.Gly284=
NM_001190266.2:c.600G>C	NP_001177195.1:p.Gly200=
NM_001190267.2:c.504G>C	NP_001177196.1:p.Gly168=
NM_001363742.2:c.903G>C	NP_001350671.1:p.Arg301Ser
NM_017974.4:c.795G>C	NP_060444.3:p.Thr265=
NM_198890.3:c.363G>C	NP_942593.2:p.Thr121=