Canonical Allele Identifier: CA2663676156

Gene: ATG16L1

Linked Data

• gnomAD v4: 2-233275694-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233275694C>A , CM000664.2:g.233275694C>A	GRCh38
NC_000002.11:g.234184340C>A , CM000664.1:g.234184340C>A	GRCh37
NC_000002.10:g.233849079C>A	NCBI36
NG_023038.1:g.29124C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000392017.9:c.954+916C>A MANE Select	ENSP00000375872.4:n.954+916C>A
ENST00000347464.9:c.465+916C>A	ENSP00000318259.6:n.465+916C>A
ENST00000373525.9:c.522+916C>A	ENSP00000362625.5:n.522+916C>A
ENST00000392017.8:c.954+916C>A	ENSP00000375872.4:n.954+916C>A
ENST00000392018.1:c.1005+916C>A	ENSP00000375873.1:n.1005+916C>A
ENST00000392020.8:c.897+916C>A	ENSP00000375875.4:n.897+916C>A
ENST00000392021.7:c.*835+916C>A	ENSP00000375876.3:n.*835+916C>A
ENST00000419681.5:c.465+916C>A	ENSP00000398773.1:n.465+916C>A
ENST00000464645.5:n.89+227C>A
ENST00000474148.5:n.1749+916C>A
ENST00000479942.5:n.1100+916C>A
ENST00000492298.5:n.475+916C>A
ENST00000498620.5:n.461+916C>A
NM_001190266.1:c.702+916C>A	NP_001177195.1:n.702+916C>A
NM_001190267.1:c.606+916C>A	NP_001177196.1:n.606+916C>A
NM_017974.3:c.897+916C>A	NP_060444.3:n.897+916C>A
NM_030803.6:c.954+916C>A	NP_110430.5:n.954+916C>A
NM_198890.2:c.465+916C>A	NP_942593.2:n.465+916C>A
XM_005246082.1:c.1005+916C>A	XP_005246139.1:n.1005+916C>A
XM_005246084.1:c.573+916C>A	XP_005246141.1:n.573+916C>A
XM_005246086.1:c.522+916C>A	XP_005246143.1:n.522+916C>A
XM_006712608.1:c.753+916C>A	XP_006712671.1:n.753+916C>A
XR_241242.1:n.1199+916C>A
NM_001363742.1:c.1005+916C>A	NP_001350671.1:n.1005+916C>A
XM_005246084.2:c.573+916C>A	XP_005246141.1:n.573+916C>A
XM_005246086.2:c.522+916C>A	XP_005246143.1:n.522+916C>A
XM_006712608.3:c.753+916C>A	XP_006712671.1:n.753+916C>A
XR_001738801.2:n.1135+916C>A
XR_241242.3:n.1186+916C>A
NM_030803.7:c.954+916C>A MANE Select	NP_110430.5:n.954+916C>A
NM_001190266.2:c.702+916C>A	NP_001177195.1:n.702+916C>A
NM_001190267.2:c.606+916C>A	NP_001177196.1:n.606+916C>A
NM_001363742.2:c.1005+916C>A	NP_001350671.1:n.1005+916C>A
NM_017974.4:c.897+916C>A	NP_060444.3:n.897+916C>A
NM_198890.3:c.465+916C>A	NP_942593.2:n.465+916C>A