Canonical Allele Identifier: CA351046440

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183396G>C (hg19) ; chr2:g.233274750G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274750G>C , CM000664.2:g.233274750G>C	GRCh38
NC_000002.11:g.234183396G>C , CM000664.1:g.234183396G>C	GRCh37
NC_000002.10:g.233848135G>C	NCBI36
NG_023038.1:g.28180G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.926G>C MANE Select	ENSP00000375872.4:p.Arg309Thr
ENST00000347464.9:c.437G>C	ENSP00000318259.6:p.Arg146Thr
ENST00000373525.9:c.494G>C	ENSP00000362625.5:p.Arg165Thr
ENST00000392017.8:c.926G>C	ENSP00000375872.4:p.Arg309Thr
ENST00000392018.1:c.977G>C	ENSP00000375873.1:p.Arg326Thr
ENST00000392020.8:c.869G>C	ENSP00000375875.4:p.Arg290Thr
ENST00000392021.7:c.*807G>C	ENSP00000375876.3:n.*807G>C
ENST00000419681.5:c.437G>C	ENSP00000398773.1:p.Arg146Thr
ENST00000474148.5:n.1721G>C
ENST00000479942.5:n.1072G>C
ENST00000492298.5:n.447G>C
ENST00000498620.5:n.433G>C
NM_001190266.1:c.674G>C	NP_001177195.1:p.Arg225Thr
NM_001190267.1:c.578G>C	NP_001177196.1:p.Arg193Thr
NM_017974.3:c.869G>C	NP_060444.3:p.Arg290Thr
NM_030803.6:c.926G>C	NP_110430.5:p.Arg309Thr
NM_198890.2:c.437G>C	NP_942593.2:p.Arg146Thr
XM_005246082.1:c.977G>C	XP_005246139.1:p.Arg326Thr
XM_005246084.1:c.545G>C	XP_005246141.1:p.Arg182Thr
XM_005246086.1:c.494G>C	XP_005246143.1:p.Arg165Thr
XM_006712608.1:c.725G>C	XP_006712671.1:p.Arg242Thr
XR_241242.1:n.1171G>C
NM_001363742.1:c.977G>C	NP_001350671.1:p.Arg326Thr
XM_005246084.2:c.545G>C	XP_005246141.1:p.Arg182Thr
XM_005246086.2:c.494G>C	XP_005246143.1:p.Arg165Thr
XM_006712608.3:c.725G>C	XP_006712671.1:p.Arg242Thr
XR_001738801.2:n.1107G>C
XR_241242.3:n.1158G>C
NM_030803.7:c.926G>C MANE Select	NP_110430.5:p.Arg309Thr
NM_001190266.2:c.674G>C	NP_001177195.1:p.Arg225Thr
NM_001190267.2:c.578G>C	NP_001177196.1:p.Arg193Thr
NM_001363742.2:c.977G>C	NP_001350671.1:p.Arg326Thr
NM_017974.4:c.869G>C	NP_060444.3:p.Arg290Thr
NM_198890.3:c.437G>C	NP_942593.2:p.Arg146Thr