Canonical Allele Identifier: CA2173706

Gene: ATG16L1

Linked Data

• dbSNP Id: rs776787304
• ExAC: 2:234183424 C / T
• gnomAD v2: 2-234183424-C-T
• gnomAD v3: 2-233274778-C-T
• gnomAD v4: 2-233274778-C-T
• MyVariant Identifiers: chr2:g.234183424C>T (hg19) ; chr2:g.233274778C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274778C>T , CM000664.2:g.233274778C>T	GRCh38
NC_000002.11:g.234183424C>T , CM000664.1:g.234183424C>T	GRCh37
NC_000002.10:g.233848163C>T	NCBI36
NG_023038.1:g.28208C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.954C>T MANE Select	ENSP00000375872.4:p.Phe318=
ENST00000347464.9:c.465C>T	ENSP00000318259.6:p.Phe155=
ENST00000373525.9:c.522C>T	ENSP00000362625.5:p.Phe174=
ENST00000392017.8:c.954C>T	ENSP00000375872.4:p.Phe318=
ENST00000392018.1:c.1005C>T	ENSP00000375873.1:p.Phe335=
ENST00000392020.8:c.897C>T	ENSP00000375875.4:p.Phe299=
ENST00000392021.7:c.*835C>T	ENSP00000375876.3:n.*835C>T
ENST00000419681.5:c.465C>T	ENSP00000398773.1:p.Phe155=
ENST00000474148.5:n.1749C>T
ENST00000479942.5:n.1100C>T
ENST00000492298.5:n.475C>T
ENST00000498620.5:n.461C>T
NM_001190266.1:c.702C>T	NP_001177195.1:p.Phe234=
NM_001190267.1:c.606C>T	NP_001177196.1:p.Phe202=
NM_017974.3:c.897C>T	NP_060444.3:p.Phe299=
NM_030803.6:c.954C>T	NP_110430.5:p.Phe318=
NM_198890.2:c.465C>T	NP_942593.2:p.Phe155=
XM_005246082.1:c.1005C>T	XP_005246139.1:p.Phe335=
XM_005246084.1:c.573C>T	XP_005246141.1:p.Phe191=
XM_005246086.1:c.522C>T	XP_005246143.1:p.Phe174=
XM_006712608.1:c.753C>T	XP_006712671.1:p.Phe251=
XR_241242.1:n.1199C>T
NM_001363742.1:c.1005C>T	NP_001350671.1:p.Phe335=
XM_005246084.2:c.573C>T	XP_005246141.1:p.Phe191=
XM_005246086.2:c.522C>T	XP_005246143.1:p.Phe174=
XM_006712608.3:c.753C>T	XP_006712671.1:p.Phe251=
XR_001738801.2:n.1135C>T
XR_241242.3:n.1186C>T
NM_030803.7:c.954C>T MANE Select	NP_110430.5:p.Phe318=
NM_001190266.2:c.702C>T	NP_001177195.1:p.Phe234=
NM_001190267.2:c.606C>T	NP_001177196.1:p.Phe202=
NM_001363742.2:c.1005C>T	NP_001350671.1:p.Phe335=
NM_017974.4:c.897C>T	NP_060444.3:p.Phe299=
NM_198890.3:c.465C>T	NP_942593.2:p.Phe155=