Canonical Allele Identifier: CA431820830

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183379T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274733T>C , CM000664.2:g.233274733T>C	GRCh38
NC_000002.11:g.234183379T>C , CM000664.1:g.234183379T>C	GRCh37
NC_000002.10:g.233848118T>C	NCBI36
NG_023038.1:g.28163T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000392017.9:c.909T>C MANE Select	ENSP00000375872.4:p.Gly303=
ENST00000347464.9:c.420T>C	ENSP00000318259.6:p.Gly140=
ENST00000373525.9:c.477T>C	ENSP00000362625.5:p.Gly159=
ENST00000392017.8:c.909T>C	ENSP00000375872.4:p.Gly303=
ENST00000392018.1:c.960T>C	ENSP00000375873.1:p.Gly320=
ENST00000392020.8:c.852T>C	ENSP00000375875.4:p.Gly284=
ENST00000392021.7:c.*790T>C	ENSP00000375876.3:n.*790T>C
ENST00000419681.5:c.420T>C	ENSP00000398773.1:p.Gly140=
ENST00000444735.5:c.528T>C	ENSP00000409215.1:p.Gly176=
ENST00000474148.5:n.1704T>C
ENST00000479942.5:n.1055T>C
ENST00000492298.5:n.430T>C
ENST00000498620.5:n.416T>C
NM_001190266.1:c.657T>C	NP_001177195.1:p.Gly219=
NM_001190267.1:c.561T>C	NP_001177196.1:p.Gly187=
NM_017974.3:c.852T>C	NP_060444.3:p.Gly284=
NM_030803.6:c.909T>C	NP_110430.5:p.Gly303=
NM_198890.2:c.420T>C	NP_942593.2:p.Gly140=
XM_005246082.1:c.960T>C	XP_005246139.1:p.Gly320=
XM_005246084.1:c.528T>C	XP_005246141.1:p.Gly176=
XM_005246086.1:c.477T>C	XP_005246143.1:p.Gly159=
XM_006712608.1:c.708T>C	XP_006712671.1:p.Gly236=
XR_241242.1:n.1154T>C
NM_001363742.1:c.960T>C	NP_001350671.1:p.Gly320=
XM_005246084.2:c.528T>C	XP_005246141.1:p.Gly176=
XM_005246086.2:c.477T>C	XP_005246143.1:p.Gly159=
XM_006712608.3:c.708T>C	XP_006712671.1:p.Gly236=
XR_001738801.2:n.1090T>C
XR_241242.3:n.1141T>C
NM_030803.7:c.909T>C MANE Select	NP_110430.5:p.Gly303=
NM_001190266.2:c.657T>C	NP_001177195.1:p.Gly219=
NM_001190267.2:c.561T>C	NP_001177196.1:p.Gly187=
NM_001363742.2:c.960T>C	NP_001350671.1:p.Gly320=
NM_017974.4:c.852T>C	NP_060444.3:p.Gly284=
NM_198890.3:c.420T>C	NP_942593.2:p.Gly140=