Canonical Allele Identifier: CA67555286
Gene: ATG16L1 HGNC NCBI

Linked Data

dbSNP Id: rs967809762

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274752G>A , CM000664.2:g.233274752G>A GRCh38
NC_000002.11:g.234183398G>A , CM000664.1:g.234183398G>A GRCh37
NC_000002.10:g.233848137G>A NCBI36
NG_023038.1:g.28182G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.928G>A MANE Select ENSP00000375872.4:p.Val310Ile
ENST00000347464.9:c.439G>A ENSP00000318259.6:p.Val147Ile
ENST00000373525.9:c.496G>A ENSP00000362625.5:p.Val166Ile
ENST00000392017.8:c.928G>A ENSP00000375872.4:p.Val310Ile
ENST00000392018.1:c.979G>A ENSP00000375873.1:p.Val327Ile
ENST00000392020.8:c.871G>A ENSP00000375875.4:p.Val291Ile
ENST00000392021.7:c.*809G>A ENSP00000375876.3:n.*809G>A
ENST00000419681.5:c.439G>A ENSP00000398773.1:p.Val147Ile
ENST00000474148.5:n.1723G>A
ENST00000479942.5:n.1074G>A
ENST00000492298.5:n.449G>A
ENST00000498620.5:n.435G>A
NM_001190266.1:c.676G>A NP_001177195.1:p.Val226Ile
NM_001190267.1:c.580G>A NP_001177196.1:p.Val194Ile
NM_017974.3:c.871G>A NP_060444.3:p.Val291Ile
NM_030803.6:c.928G>A NP_110430.5:p.Val310Ile
NM_198890.2:c.439G>A NP_942593.2:p.Val147Ile
XM_005246082.1:c.979G>A XP_005246139.1:p.Val327Ile
XM_005246084.1:c.547G>A XP_005246141.1:p.Val183Ile
XM_005246086.1:c.496G>A XP_005246143.1:p.Val166Ile
XM_006712608.1:c.727G>A XP_006712671.1:p.Val243Ile
XR_241242.1:n.1173G>A
NM_001363742.1:c.979G>A NP_001350671.1:p.Val327Ile
XM_005246084.2:c.547G>A XP_005246141.1:p.Val183Ile
XM_005246086.2:c.496G>A XP_005246143.1:p.Val166Ile
XM_006712608.3:c.727G>A XP_006712671.1:p.Val243Ile
XR_001738801.2:n.1109G>A
XR_241242.3:n.1160G>A
NM_030803.7:c.928G>A MANE Select NP_110430.5:p.Val310Ile
NM_001190266.2:c.676G>A NP_001177195.1:p.Val226Ile
NM_001190267.2:c.580G>A NP_001177196.1:p.Val194Ile
NM_001363742.2:c.979G>A NP_001350671.1:p.Val327Ile
NM_017974.4:c.871G>A NP_060444.3:p.Val291Ile
NM_198890.3:c.439G>A NP_942593.2:p.Val147Ile