Canonical Allele Identifier: CA351046353

Gene: ATG16L1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.902A>T MANE Select	ENSP00000375872.4:p.His301Leu
ENST00000347464.9:c.413A>T	ENSP00000318259.6:p.His138Leu
ENST00000373525.9:c.470A>T	ENSP00000362625.5:p.His157Leu
ENST00000392017.8:c.902A>T	ENSP00000375872.4:p.His301Leu
ENST00000392018.1:c.953A>T	ENSP00000375873.1:p.His318Leu
ENST00000392020.8:c.845A>T	ENSP00000375875.4:p.His282Leu
ENST00000392021.7:c.*783A>T	ENSP00000375876.3:n.*783A>T
ENST00000419681.5:c.413A>T	ENSP00000398773.1:p.His138Leu
ENST00000444735.5:c.521A>T	ENSP00000409215.1:p.His174Leu
ENST00000474148.5:n.1697A>T
ENST00000479942.5:n.1048A>T
ENST00000492298.5:n.423A>T
ENST00000498620.5:n.409A>T
NM_001190266.1:c.650A>T	NP_001177195.1:p.His217Leu
NM_001190267.1:c.554A>T	NP_001177196.1:p.His185Leu
NM_017974.3:c.845A>T	NP_060444.3:p.His282Leu
NM_030803.6:c.902A>T	NP_110430.5:p.His301Leu
NM_198890.2:c.413A>T	NP_942593.2:p.His138Leu
XM_005246082.1:c.953A>T	XP_005246139.1:p.His318Leu
XM_005246084.1:c.521A>T	XP_005246141.1:p.His174Leu
XM_005246086.1:c.470A>T	XP_005246143.1:p.His157Leu
XM_006712608.1:c.701A>T	XP_006712671.1:p.His234Leu
XR_241242.1:n.1147A>T
NM_001363742.1:c.953A>T	NP_001350671.1:p.His318Leu
XM_005246084.2:c.521A>T	XP_005246141.1:p.His174Leu
XM_005246086.2:c.470A>T	XP_005246143.1:p.His157Leu
XM_006712608.3:c.701A>T	XP_006712671.1:p.His234Leu
XR_001738801.2:n.1083A>T
XR_241242.3:n.1134A>T
NM_030803.7:c.902A>T MANE Select	NP_110430.5:p.His301Leu
NM_001190266.2:c.650A>T	NP_001177195.1:p.His217Leu
NM_001190267.2:c.554A>T	NP_001177196.1:p.His185Leu
NM_001363742.2:c.953A>T	NP_001350671.1:p.His318Leu
NM_017974.4:c.845A>T	NP_060444.3:p.His282Leu
NM_198890.3:c.413A>T	NP_942593.2:p.His138Leu