Canonical Allele Identifier: CA351046262

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183351C>A (hg19) ; chr2:g.233274705C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274705C>A , CM000664.2:g.233274705C>A	GRCh38
NC_000002.11:g.234183351C>A , CM000664.1:g.234183351C>A	GRCh37
NC_000002.10:g.233848090C>A	NCBI36
NG_023038.1:g.28135C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.881C>A MANE Select	ENSP00000375872.4:p.Pro294His
ENST00000347464.9:c.392C>A	ENSP00000318259.6:p.Pro131His
ENST00000373525.9:c.449C>A	ENSP00000362625.5:p.Pro150His
ENST00000392017.8:c.881C>A	ENSP00000375872.4:p.Pro294His
ENST00000392018.1:c.932C>A	ENSP00000375873.1:p.Pro311His
ENST00000392020.8:c.824C>A	ENSP00000375875.4:p.Pro275His
ENST00000392021.7:c.*762C>A	ENSP00000375876.3:n.*762C>A
ENST00000419681.5:c.392C>A	ENSP00000398773.1:p.Pro131His
ENST00000444735.5:c.500C>A	ENSP00000409215.1:p.Pro167His
ENST00000474148.5:n.1676C>A
ENST00000479942.5:n.1027C>A
ENST00000492298.5:n.402C>A
ENST00000498620.5:n.388C>A
NM_001190266.1:c.629C>A	NP_001177195.1:p.Pro210His
NM_001190267.1:c.533C>A	NP_001177196.1:p.Pro178His
NM_017974.3:c.824C>A	NP_060444.3:p.Pro275His
NM_030803.6:c.881C>A	NP_110430.5:p.Pro294His
NM_198890.2:c.392C>A	NP_942593.2:p.Pro131His
XM_005246082.1:c.932C>A	XP_005246139.1:p.Pro311His
XM_005246084.1:c.500C>A	XP_005246141.1:p.Pro167His
XM_005246086.1:c.449C>A	XP_005246143.1:p.Pro150His
XM_006712608.1:c.680C>A	XP_006712671.1:p.Pro227His
XR_241242.1:n.1126C>A
NM_001363742.1:c.932C>A	NP_001350671.1:p.Pro311His
XM_005246084.2:c.500C>A	XP_005246141.1:p.Pro167His
XM_005246086.2:c.449C>A	XP_005246143.1:p.Pro150His
XM_006712608.3:c.680C>A	XP_006712671.1:p.Pro227His
XR_001738801.2:n.1062C>A
XR_241242.3:n.1113C>A
NM_030803.7:c.881C>A MANE Select	NP_110430.5:p.Pro294His
NM_001190266.2:c.629C>A	NP_001177195.1:p.Pro210His
NM_001190267.2:c.533C>A	NP_001177196.1:p.Pro178His
NM_001363742.2:c.932C>A	NP_001350671.1:p.Pro311His
NM_017974.4:c.824C>A	NP_060444.3:p.Pro275His
NM_198890.3:c.392C>A	NP_942593.2:p.Pro131His