Canonical Allele Identifier: CA351046368

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183375C>A (hg19) ; chr2:g.233274729C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274729C>A , CM000664.2:g.233274729C>A	GRCh38
NC_000002.11:g.234183375C>A , CM000664.1:g.234183375C>A	GRCh37
NC_000002.10:g.233848114C>A	NCBI36
NG_023038.1:g.28159C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.905C>A MANE Select	ENSP00000375872.4:p.Pro302His
ENST00000347464.9:c.416C>A	ENSP00000318259.6:p.Pro139His
ENST00000373525.9:c.473C>A	ENSP00000362625.5:p.Pro158His
ENST00000392017.8:c.905C>A	ENSP00000375872.4:p.Pro302His
ENST00000392018.1:c.956C>A	ENSP00000375873.1:p.Pro319His
ENST00000392020.8:c.848C>A	ENSP00000375875.4:p.Pro283His
ENST00000392021.7:c.*786C>A	ENSP00000375876.3:n.*786C>A
ENST00000419681.5:c.416C>A	ENSP00000398773.1:p.Pro139His
ENST00000444735.5:c.524C>A	ENSP00000409215.1:p.Pro175His
ENST00000474148.5:n.1700C>A
ENST00000479942.5:n.1051C>A
ENST00000492298.5:n.426C>A
ENST00000498620.5:n.412C>A
NM_001190266.1:c.653C>A	NP_001177195.1:p.Pro218His
NM_001190267.1:c.557C>A	NP_001177196.1:p.Pro186His
NM_017974.3:c.848C>A	NP_060444.3:p.Pro283His
NM_030803.6:c.905C>A	NP_110430.5:p.Pro302His
NM_198890.2:c.416C>A	NP_942593.2:p.Pro139His
XM_005246082.1:c.956C>A	XP_005246139.1:p.Pro319His
XM_005246084.1:c.524C>A	XP_005246141.1:p.Pro175His
XM_005246086.1:c.473C>A	XP_005246143.1:p.Pro158His
XM_006712608.1:c.704C>A	XP_006712671.1:p.Pro235His
XR_241242.1:n.1150C>A
NM_001363742.1:c.956C>A	NP_001350671.1:p.Pro319His
XM_005246084.2:c.524C>A	XP_005246141.1:p.Pro175His
XM_005246086.2:c.473C>A	XP_005246143.1:p.Pro158His
XM_006712608.3:c.704C>A	XP_006712671.1:p.Pro235His
XR_001738801.2:n.1086C>A
XR_241242.3:n.1137C>A
NM_030803.7:c.905C>A MANE Select	NP_110430.5:p.Pro302His
NM_001190266.2:c.653C>A	NP_001177195.1:p.Pro218His
NM_001190267.2:c.557C>A	NP_001177196.1:p.Pro186His
NM_001363742.2:c.956C>A	NP_001350671.1:p.Pro319His
NM_017974.4:c.848C>A	NP_060444.3:p.Pro283His
NM_198890.3:c.416C>A	NP_942593.2:p.Pro139His