Canonical Allele Identifier: CA11141044
Gene: ATG16L1 HGNC NCBI

Linked Data

dbSNP Id: rs13005285

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233286311T>G , CM000664.2:g.233286311T>G GRCh38
NC_000002.11:g.234194957T>G , CM000664.1:g.234194957T>G GRCh37
NC_000002.10:g.233859696T>G NCBI36
NG_023038.1:g.39741T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000392017.9:c.1204-3543T>G MANE Select ENSP00000375872.4:p.=
ENST00000347464.9:c.715-3543T>G ENSP00000318259.6:p.=
ENST00000373525.9:c.667-3543T>G ENSP00000362625.5:p.=
ENST00000392017.8:c.1204-3543T>G ENSP00000375872.4:p.=
ENST00000392018.1:c.1255-3543T>G ENSP00000375873.1:p.=
ENST00000392020.8:c.1147-3543T>G ENSP00000375875.4:p.=
ENST00000392021.7:c.*1085-3543T>G ENSP00000375876.3:p.=
ENST00000464645.5:n.339-3543T>G
ENST00000474148.5:n.1999-3543T>G
ENST00000479942.5:n.1350-3543T>G
ENST00000498620.5:n.711-3543T>G
NM_001190266.1:c.952-3543T>G NP_001177195.1:p.=
NM_001190267.1:c.856-3543T>G NP_001177196.1:p.=
NM_017974.3:c.1147-3543T>G NP_060444.3:p.=
NM_030803.6:c.1204-3543T>G NP_110430.5:p.=
NM_198890.2:c.715-3543T>G NP_942593.2:p.=
XM_005246082.1:c.1255-3543T>G XP_005246139.1:p.=
XM_005246084.1:c.823-3543T>G XP_005246141.1:p.=
XM_005246086.1:c.772-3543T>G XP_005246143.1:p.=
XM_006712608.1:c.1003-3543T>G XP_006712671.1:p.=
XR_241242.1:n.1449-3543T>G
NM_001363742.1:c.1255-3543T>G NP_001350671.1:p.=
XM_005246084.2:c.823-3543T>G XP_005246141.1:p.=
XM_005246086.2:c.772-3543T>G XP_005246143.1:p.=
XM_006712608.3:c.1003-3543T>G XP_006712671.1:p.=
XR_001738801.2:n.1385-3543T>G
XR_241242.3:n.1436-3543T>G
NM_030803.7:c.1204-3543T>G MANE Select NP_110430.5:p.=
NM_001190266.2:c.952-3543T>G NP_001177195.1:p.=
NM_001190267.2:c.856-3543T>G NP_001177196.1:p.=
NM_001363742.2:c.1255-3543T>G NP_001350671.1:p.=
NM_017974.4:c.1147-3543T>G NP_060444.3:p.=
NM_198890.3:c.715-3543T>G NP_942593.2:p.=