Canonical Allele Identifier: CA2754678528

Gene: ATG16L1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274440G>T , CM000664.2:g.233274440G>T	GRCh38
NC_000002.11:g.234183086G>T , CM000664.1:g.234183086G>T	GRCh37
NC_000002.10:g.233847825G>T	NCBI36
NG_023038.1:g.27870G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.852-236G>T MANE Select	ENSP00000375872.4:n.852-236G>T
ENST00000347464.9:c.363-236G>T	ENSP00000318259.6:n.363-236G>T
ENST00000373525.9:c.420-236G>T	ENSP00000362625.5:n.420-236G>T
ENST00000392017.8:c.852-236G>T	ENSP00000375872.4:n.852-236G>T
ENST00000392018.1:c.903-236G>T	ENSP00000375873.1:n.903-236G>T
ENST00000392020.8:c.795-236G>T	ENSP00000375875.4:n.795-236G>T
ENST00000392021.7:c.*733-236G>T	ENSP00000375876.3:n.*733-236G>T
ENST00000419681.5:c.363-236G>T	ENSP00000398773.1:n.363-236G>T
ENST00000444735.5:c.471-236G>T	ENSP00000409215.1:n.471-236G>T
ENST00000474148.5:n.1647-236G>T
ENST00000479942.5:n.998-236G>T
ENST00000492298.5:n.137G>T
ENST00000498620.5:n.359-236G>T
NM_001190266.1:c.600-236G>T	NP_001177195.1:n.600-236G>T
NM_001190267.1:c.504-236G>T	NP_001177196.1:n.504-236G>T
NM_017974.3:c.795-236G>T	NP_060444.3:n.795-236G>T
NM_030803.6:c.852-236G>T	NP_110430.5:n.852-236G>T
NM_198890.2:c.363-236G>T	NP_942593.2:n.363-236G>T
XM_005246082.1:c.903-236G>T	XP_005246139.1:n.903-236G>T
XM_005246084.1:c.471-236G>T	XP_005246141.1:n.471-236G>T
XM_005246086.1:c.420-236G>T	XP_005246143.1:n.420-236G>T
XM_006712608.1:c.651-236G>T	XP_006712671.1:n.651-236G>T
XR_241242.1:n.1097-236G>T
NM_001363742.1:c.903-236G>T	NP_001350671.1:n.903-236G>T
XM_005246084.2:c.471-236G>T	XP_005246141.1:n.471-236G>T
XM_005246086.2:c.420-236G>T	XP_005246143.1:n.420-236G>T
XM_006712608.3:c.651-236G>T	XP_006712671.1:n.651-236G>T
XR_001738801.2:n.1033-236G>T
XR_241242.3:n.1084-236G>T
NM_030803.7:c.852-236G>T MANE Select	NP_110430.5:n.852-236G>T
NM_001190266.2:c.600-236G>T	NP_001177195.1:n.600-236G>T
NM_001190267.2:c.504-236G>T	NP_001177196.1:n.504-236G>T
NM_001363742.2:c.903-236G>T	NP_001350671.1:n.903-236G>T
NM_017974.4:c.795-236G>T	NP_060444.3:n.795-236G>T
NM_198890.3:c.363-236G>T	NP_942593.2:n.363-236G>T