Canonical Allele Identifier: CA431820852

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183403A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274757A>C , CM000664.2:g.233274757A>C	GRCh38
NC_000002.11:g.234183403A>C , CM000664.1:g.234183403A>C	GRCh37
NC_000002.10:g.233848142A>C	NCBI36
NG_023038.1:g.28187A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.933A>C MANE Select	ENSP00000375872.4:p.Pro311=
ENST00000347464.9:c.444A>C	ENSP00000318259.6:p.Pro148=
ENST00000373525.9:c.501A>C	ENSP00000362625.5:p.Pro167=
ENST00000392017.8:c.933A>C	ENSP00000375872.4:p.Pro311=
ENST00000392018.1:c.984A>C	ENSP00000375873.1:p.Pro328=
ENST00000392020.8:c.876A>C	ENSP00000375875.4:p.Pro292=
ENST00000392021.7:c.*814A>C	ENSP00000375876.3:n.*814A>C
ENST00000419681.5:c.444A>C	ENSP00000398773.1:p.Pro148=
ENST00000474148.5:n.1728A>C
ENST00000479942.5:n.1079A>C
ENST00000492298.5:n.454A>C
ENST00000498620.5:n.440A>C
NM_001190266.1:c.681A>C	NP_001177195.1:p.Pro227=
NM_001190267.1:c.585A>C	NP_001177196.1:p.Pro195=
NM_017974.3:c.876A>C	NP_060444.3:p.Pro292=
NM_030803.6:c.933A>C	NP_110430.5:p.Pro311=
NM_198890.2:c.444A>C	NP_942593.2:p.Pro148=
XM_005246082.1:c.984A>C	XP_005246139.1:p.Pro328=
XM_005246084.1:c.552A>C	XP_005246141.1:p.Pro184=
XM_005246086.1:c.501A>C	XP_005246143.1:p.Pro167=
XM_006712608.1:c.732A>C	XP_006712671.1:p.Pro244=
XR_241242.1:n.1178A>C
NM_001363742.1:c.984A>C	NP_001350671.1:p.Pro328=
XM_005246084.2:c.552A>C	XP_005246141.1:p.Pro184=
XM_005246086.2:c.501A>C	XP_005246143.1:p.Pro167=
XM_006712608.3:c.732A>C	XP_006712671.1:p.Pro244=
XR_001738801.2:n.1114A>C
XR_241242.3:n.1165A>C
NM_030803.7:c.933A>C MANE Select	NP_110430.5:p.Pro311=
NM_001190266.2:c.681A>C	NP_001177195.1:p.Pro227=
NM_001190267.2:c.585A>C	NP_001177196.1:p.Pro195=
NM_001363742.2:c.984A>C	NP_001350671.1:p.Pro328=
NM_017974.4:c.876A>C	NP_060444.3:p.Pro292=
NM_198890.3:c.444A>C	NP_942593.2:p.Pro148=