Canonical Allele Identifier: CA431820825
Gene: ATG16L1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.234183376T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274730T>G , CM000664.2:g.233274730T>G GRCh38
NC_000002.11:g.234183376T>G , CM000664.1:g.234183376T>G GRCh37
NC_000002.10:g.233848115T>G NCBI36
NG_023038.1:g.28160T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.906T>G MANE Select ENSP00000375872.4:p.Pro302=
ENST00000347464.9:c.417T>G ENSP00000318259.6:p.Pro139=
ENST00000373525.9:c.474T>G ENSP00000362625.5:p.Pro158=
ENST00000392017.8:c.906T>G ENSP00000375872.4:p.Pro302=
ENST00000392018.1:c.957T>G ENSP00000375873.1:p.Pro319=
ENST00000392020.8:c.849T>G ENSP00000375875.4:p.Pro283=
ENST00000392021.7:c.*787T>G ENSP00000375876.3:n.*787T>G
ENST00000419681.5:c.417T>G ENSP00000398773.1:p.Pro139=
ENST00000444735.5:c.525T>G ENSP00000409215.1:p.Pro175=
ENST00000474148.5:n.1701T>G
ENST00000479942.5:n.1052T>G
ENST00000492298.5:n.427T>G
ENST00000498620.5:n.413T>G
NM_001190266.1:c.654T>G NP_001177195.1:p.Pro218=
NM_001190267.1:c.558T>G NP_001177196.1:p.Pro186=
NM_017974.3:c.849T>G NP_060444.3:p.Pro283=
NM_030803.6:c.906T>G NP_110430.5:p.Pro302=
NM_198890.2:c.417T>G NP_942593.2:p.Pro139=
XM_005246082.1:c.957T>G XP_005246139.1:p.Pro319=
XM_005246084.1:c.525T>G XP_005246141.1:p.Pro175=
XM_005246086.1:c.474T>G XP_005246143.1:p.Pro158=
XM_006712608.1:c.705T>G XP_006712671.1:p.Pro235=
XR_241242.1:n.1151T>G
NM_001363742.1:c.957T>G NP_001350671.1:p.Pro319=
XM_005246084.2:c.525T>G XP_005246141.1:p.Pro175=
XM_005246086.2:c.474T>G XP_005246143.1:p.Pro158=
XM_006712608.3:c.705T>G XP_006712671.1:p.Pro235=
XR_001738801.2:n.1087T>G
XR_241242.3:n.1138T>G
NM_030803.7:c.906T>G MANE Select NP_110430.5:p.Pro302=
NM_001190266.2:c.654T>G NP_001177195.1:p.Pro218=
NM_001190267.2:c.558T>G NP_001177196.1:p.Pro186=
NM_001363742.2:c.957T>G NP_001350671.1:p.Pro319=
NM_017974.4:c.849T>G NP_060444.3:p.Pro283=
NM_198890.3:c.417T>G NP_942593.2:p.Pro139=