Canonical Allele Identifier: CA431820866

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183421C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274775C>A , CM000664.2:g.233274775C>A	GRCh38
NC_000002.11:g.234183421C>A , CM000664.1:g.234183421C>A	GRCh37
NC_000002.10:g.233848160C>A	NCBI36
NG_023038.1:g.28205C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.951C>A MANE Select	ENSP00000375872.4:p.Val317=
ENST00000347464.9:c.462C>A	ENSP00000318259.6:p.Val154=
ENST00000373525.9:c.519C>A	ENSP00000362625.5:p.Val173=
ENST00000392017.8:c.951C>A	ENSP00000375872.4:p.Val317=
ENST00000392018.1:c.1002C>A	ENSP00000375873.1:p.Val334=
ENST00000392020.8:c.894C>A	ENSP00000375875.4:p.Val298=
ENST00000392021.7:c.*832C>A	ENSP00000375876.3:n.*832C>A
ENST00000419681.5:c.462C>A	ENSP00000398773.1:p.Val154=
ENST00000474148.5:n.1746C>A
ENST00000479942.5:n.1097C>A
ENST00000492298.5:n.472C>A
ENST00000498620.5:n.458C>A
NM_001190266.1:c.699C>A	NP_001177195.1:p.Val233=
NM_001190267.1:c.603C>A	NP_001177196.1:p.Val201=
NM_017974.3:c.894C>A	NP_060444.3:p.Val298=
NM_030803.6:c.951C>A	NP_110430.5:p.Val317=
NM_198890.2:c.462C>A	NP_942593.2:p.Val154=
XM_005246082.1:c.1002C>A	XP_005246139.1:p.Val334=
XM_005246084.1:c.570C>A	XP_005246141.1:p.Val190=
XM_005246086.1:c.519C>A	XP_005246143.1:p.Val173=
XM_006712608.1:c.750C>A	XP_006712671.1:p.Val250=
XR_241242.1:n.1196C>A
NM_001363742.1:c.1002C>A	NP_001350671.1:p.Val334=
XM_005246084.2:c.570C>A	XP_005246141.1:p.Val190=
XM_005246086.2:c.519C>A	XP_005246143.1:p.Val173=
XM_006712608.3:c.750C>A	XP_006712671.1:p.Val250=
XR_001738801.2:n.1132C>A
XR_241242.3:n.1183C>A
NM_030803.7:c.951C>A MANE Select	NP_110430.5:p.Val317=
NM_001190266.2:c.699C>A	NP_001177195.1:p.Val233=
NM_001190267.2:c.603C>A	NP_001177196.1:p.Val201=
NM_001363742.2:c.1002C>A	NP_001350671.1:p.Val334=
NM_017974.4:c.894C>A	NP_060444.3:p.Val298=
NM_198890.3:c.462C>A	NP_942593.2:p.Val154=