Canonical Allele Identifier: CA351046714
Gene: ATG16L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274780T>C , CM000664.2:g.233274780T>C GRCh38
NC_000002.11:g.234183426T>C , CM000664.1:g.234183426T>C GRCh37
NC_000002.10:g.233848165T>C NCBI36
NG_023038.1:g.28210T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.954+2T>C MANE Select ENSP00000375872.4:n.954+2T>C
ENST00000347464.9:c.465+2T>C ENSP00000318259.6:n.465+2T>C
ENST00000373525.9:c.522+2T>C ENSP00000362625.5:n.522+2T>C
ENST00000392017.8:c.954+2T>C ENSP00000375872.4:n.954+2T>C
ENST00000392018.1:c.1005+2T>C ENSP00000375873.1:n.1005+2T>C
ENST00000392020.8:c.897+2T>C ENSP00000375875.4:n.897+2T>C
ENST00000392021.7:c.*835+2T>C ENSP00000375876.3:n.*835+2T>C
ENST00000419681.5:c.465+2T>C ENSP00000398773.1:n.465+2T>C
ENST00000474148.5:n.1749+2T>C
ENST00000479942.5:n.1100+2T>C
ENST00000492298.5:n.475+2T>C
ENST00000498620.5:n.461+2T>C
NM_001190266.1:c.702+2T>C NP_001177195.1:n.702+2T>C
NM_001190267.1:c.606+2T>C NP_001177196.1:n.606+2T>C
NM_017974.3:c.897+2T>C NP_060444.3:n.897+2T>C
NM_030803.6:c.954+2T>C NP_110430.5:n.954+2T>C
NM_198890.2:c.465+2T>C NP_942593.2:n.465+2T>C
XM_005246082.1:c.1005+2T>C XP_005246139.1:n.1005+2T>C
XM_005246084.1:c.573+2T>C XP_005246141.1:n.573+2T>C
XM_005246086.1:c.522+2T>C XP_005246143.1:n.522+2T>C
XM_006712608.1:c.753+2T>C XP_006712671.1:n.753+2T>C
XR_241242.1:n.1199+2T>C
NM_001363742.1:c.1005+2T>C NP_001350671.1:n.1005+2T>C
XM_005246084.2:c.573+2T>C XP_005246141.1:n.573+2T>C
XM_005246086.2:c.522+2T>C XP_005246143.1:n.522+2T>C
XM_006712608.3:c.753+2T>C XP_006712671.1:n.753+2T>C
XR_001738801.2:n.1135+2T>C
XR_241242.3:n.1186+2T>C
NM_030803.7:c.954+2T>C MANE Select NP_110430.5:n.954+2T>C
NM_001190266.2:c.702+2T>C NP_001177195.1:n.702+2T>C
NM_001190267.2:c.606+2T>C NP_001177196.1:n.606+2T>C
NM_001363742.2:c.1005+2T>C NP_001350671.1:n.1005+2T>C
NM_017974.4:c.897+2T>C NP_060444.3:n.897+2T>C
NM_198890.3:c.465+2T>C NP_942593.2:n.465+2T>C