Canonical Allele Identifier: CA351046246

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183345C>G (hg19) ; chr2:g.233274699C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274699C>G , CM000664.2:g.233274699C>G	GRCh38
NC_000002.11:g.234183345C>G , CM000664.1:g.234183345C>G	GRCh37
NC_000002.10:g.233848084C>G	NCBI36
NG_023038.1:g.28129C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.875C>G MANE Select	ENSP00000375872.4:p.Pro292Arg
ENST00000347464.9:c.386C>G	ENSP00000318259.6:p.Pro129Arg
ENST00000373525.9:c.443C>G	ENSP00000362625.5:p.Pro148Arg
ENST00000392017.8:c.875C>G	ENSP00000375872.4:p.Pro292Arg
ENST00000392018.1:c.926C>G	ENSP00000375873.1:p.Pro309Arg
ENST00000392020.8:c.818C>G	ENSP00000375875.4:p.Pro273Arg
ENST00000392021.7:c.*756C>G	ENSP00000375876.3:n.*756C>G
ENST00000419681.5:c.386C>G	ENSP00000398773.1:p.Pro129Arg
ENST00000444735.5:c.494C>G	ENSP00000409215.1:p.Pro165Arg
ENST00000474148.5:n.1670C>G
ENST00000479942.5:n.1021C>G
ENST00000492298.5:n.396C>G
ENST00000498620.5:n.382C>G
NM_001190266.1:c.623C>G	NP_001177195.1:p.Pro208Arg
NM_001190267.1:c.527C>G	NP_001177196.1:p.Pro176Arg
NM_017974.3:c.818C>G	NP_060444.3:p.Pro273Arg
NM_030803.6:c.875C>G	NP_110430.5:p.Pro292Arg
NM_198890.2:c.386C>G	NP_942593.2:p.Pro129Arg
XM_005246082.1:c.926C>G	XP_005246139.1:p.Pro309Arg
XM_005246084.1:c.494C>G	XP_005246141.1:p.Pro165Arg
XM_005246086.1:c.443C>G	XP_005246143.1:p.Pro148Arg
XM_006712608.1:c.674C>G	XP_006712671.1:p.Pro225Arg
XR_241242.1:n.1120C>G
NM_001363742.1:c.926C>G	NP_001350671.1:p.Pro309Arg
XM_005246084.2:c.494C>G	XP_005246141.1:p.Pro165Arg
XM_005246086.2:c.443C>G	XP_005246143.1:p.Pro148Arg
XM_006712608.3:c.674C>G	XP_006712671.1:p.Pro225Arg
XR_001738801.2:n.1056C>G
XR_241242.3:n.1107C>G
NM_030803.7:c.875C>G MANE Select	NP_110430.5:p.Pro292Arg
NM_001190266.2:c.623C>G	NP_001177195.1:p.Pro208Arg
NM_001190267.2:c.527C>G	NP_001177196.1:p.Pro176Arg
NM_001363742.2:c.926C>G	NP_001350671.1:p.Pro309Arg
NM_017974.4:c.818C>G	NP_060444.3:p.Pro273Arg
NM_198890.3:c.386C>G	NP_942593.2:p.Pro129Arg