Canonical Allele Identifier: CA351046350

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183372A>C (hg19) ; chr2:g.233274726A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274726A>C , CM000664.2:g.233274726A>C	GRCh38
NC_000002.11:g.234183372A>C , CM000664.1:g.234183372A>C	GRCh37
NC_000002.10:g.233848111A>C	NCBI36
NG_023038.1:g.28156A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.902A>C MANE Select	ENSP00000375872.4:p.His301Pro
ENST00000347464.9:c.413A>C	ENSP00000318259.6:p.His138Pro
ENST00000373525.9:c.470A>C	ENSP00000362625.5:p.His157Pro
ENST00000392017.8:c.902A>C	ENSP00000375872.4:p.His301Pro
ENST00000392018.1:c.953A>C	ENSP00000375873.1:p.His318Pro
ENST00000392020.8:c.845A>C	ENSP00000375875.4:p.His282Pro
ENST00000392021.7:c.*783A>C	ENSP00000375876.3:n.*783A>C
ENST00000419681.5:c.413A>C	ENSP00000398773.1:p.His138Pro
ENST00000444735.5:c.521A>C	ENSP00000409215.1:p.His174Pro
ENST00000474148.5:n.1697A>C
ENST00000479942.5:n.1048A>C
ENST00000492298.5:n.423A>C
ENST00000498620.5:n.409A>C
NM_001190266.1:c.650A>C	NP_001177195.1:p.His217Pro
NM_001190267.1:c.554A>C	NP_001177196.1:p.His185Pro
NM_017974.3:c.845A>C	NP_060444.3:p.His282Pro
NM_030803.6:c.902A>C	NP_110430.5:p.His301Pro
NM_198890.2:c.413A>C	NP_942593.2:p.His138Pro
XM_005246082.1:c.953A>C	XP_005246139.1:p.His318Pro
XM_005246084.1:c.521A>C	XP_005246141.1:p.His174Pro
XM_005246086.1:c.470A>C	XP_005246143.1:p.His157Pro
XM_006712608.1:c.701A>C	XP_006712671.1:p.His234Pro
XR_241242.1:n.1147A>C
NM_001363742.1:c.953A>C	NP_001350671.1:p.His318Pro
XM_005246084.2:c.521A>C	XP_005246141.1:p.His174Pro
XM_005246086.2:c.470A>C	XP_005246143.1:p.His157Pro
XM_006712608.3:c.701A>C	XP_006712671.1:p.His234Pro
XR_001738801.2:n.1083A>C
XR_241242.3:n.1134A>C
NM_030803.7:c.902A>C MANE Select	NP_110430.5:p.His301Pro
NM_001190266.2:c.650A>C	NP_001177195.1:p.His217Pro
NM_001190267.2:c.554A>C	NP_001177196.1:p.His185Pro
NM_001363742.2:c.953A>C	NP_001350671.1:p.His318Pro
NM_017974.4:c.845A>C	NP_060444.3:p.His282Pro
NM_198890.3:c.413A>C	NP_942593.2:p.His138Pro