Canonical Allele Identifier: CA540038519

Gene: ATG16L1

Linked Data

• dbSNP Id: rs1440827963
• gnomAD v2: 2-234184330-C-T
• gnomAD v3: 2-233275684-C-T
• gnomAD v4: 2-233275684-C-T
• MyVariant Identifiers: chr2:g.234184330C>T (hg19) ; chr2:g.233275684C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233275684C>T , CM000664.2:g.233275684C>T	GRCh38
NC_000002.11:g.234184330C>T , CM000664.1:g.234184330C>T	GRCh37
NC_000002.10:g.233849069C>T	NCBI36
NG_023038.1:g.29114C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.954+906C>T MANE Select	ENSP00000375872.4:n.954+906C>T
ENST00000347464.9:c.465+906C>T	ENSP00000318259.6:n.465+906C>T
ENST00000373525.9:c.522+906C>T	ENSP00000362625.5:n.522+906C>T
ENST00000392017.8:c.954+906C>T	ENSP00000375872.4:n.954+906C>T
ENST00000392018.1:c.1005+906C>T	ENSP00000375873.1:n.1005+906C>T
ENST00000392020.8:c.897+906C>T	ENSP00000375875.4:n.897+906C>T
ENST00000392021.7:c.*835+906C>T	ENSP00000375876.3:n.*835+906C>T
ENST00000419681.5:c.465+906C>T	ENSP00000398773.1:n.465+906C>T
ENST00000464645.5:n.89+217C>T
ENST00000474148.5:n.1749+906C>T
ENST00000479942.5:n.1100+906C>T
ENST00000492298.5:n.475+906C>T
ENST00000498620.5:n.461+906C>T
NM_001190266.1:c.702+906C>T	NP_001177195.1:n.702+906C>T
NM_001190267.1:c.606+906C>T	NP_001177196.1:n.606+906C>T
NM_017974.3:c.897+906C>T	NP_060444.3:n.897+906C>T
NM_030803.6:c.954+906C>T	NP_110430.5:n.954+906C>T
NM_198890.2:c.465+906C>T	NP_942593.2:n.465+906C>T
XM_005246082.1:c.1005+906C>T	XP_005246139.1:n.1005+906C>T
XM_005246084.1:c.573+906C>T	XP_005246141.1:n.573+906C>T
XM_005246086.1:c.522+906C>T	XP_005246143.1:n.522+906C>T
XM_006712608.1:c.753+906C>T	XP_006712671.1:n.753+906C>T
XR_241242.1:n.1199+906C>T
NM_001363742.1:c.1005+906C>T	NP_001350671.1:n.1005+906C>T
XM_005246084.2:c.573+906C>T	XP_005246141.1:n.573+906C>T
XM_005246086.2:c.522+906C>T	XP_005246143.1:n.522+906C>T
XM_006712608.3:c.753+906C>T	XP_006712671.1:n.753+906C>T
XR_001738801.2:n.1135+906C>T
XR_241242.3:n.1186+906C>T
NM_030803.7:c.954+906C>T MANE Select	NP_110430.5:n.954+906C>T
NM_001190266.2:c.702+906C>T	NP_001177195.1:n.702+906C>T
NM_001190267.2:c.606+906C>T	NP_001177196.1:n.606+906C>T
NM_001363742.2:c.1005+906C>T	NP_001350671.1:n.1005+906C>T
NM_017974.4:c.897+906C>T	NP_060444.3:n.897+906C>T
NM_198890.3:c.465+906C>T	NP_942593.2:n.465+906C>T