Canonical Allele Identifier: CA540039771

Gene: ATG16L1

Linked Data

• dbSNP Id: rs1370464419
• gnomAD v2: 2-234194887-G-T
• gnomAD v3: 2-233286241-G-T
• gnomAD v4: 2-233286241-G-T
• MyVariant Identifiers: chr2:g.234194887G>T (hg19) ; chr2:g.233286241G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233286241G>T , CM000664.2:g.233286241G>T	GRCh38
NC_000002.11:g.234194887G>T , CM000664.1:g.234194887G>T	GRCh37
NC_000002.10:g.233859626G>T	NCBI36
NG_023038.1:g.39671G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000392017.9:c.1203+3488G>T MANE Select	ENSP00000375872.4:n.1203+3488G>T
ENST00000347464.9:c.714+3488G>T	ENSP00000318259.6:n.714+3488G>T
ENST00000373525.9:c.666+3488G>T	ENSP00000362625.5:n.666+3488G>T
ENST00000392017.8:c.1203+3488G>T	ENSP00000375872.4:n.1203+3488G>T
ENST00000392018.1:c.1254+3488G>T	ENSP00000375873.1:n.1254+3488G>T
ENST00000392020.8:c.1146+3488G>T	ENSP00000375875.4:n.1146+3488G>T
ENST00000392021.7:c.*1084+3488G>T	ENSP00000375876.3:n.*1084+3488G>T
ENST00000464645.5:n.338+3488G>T
ENST00000474148.5:n.1998+3488G>T
ENST00000479942.5:n.1349+3488G>T
ENST00000498620.5:n.710+3488G>T
NM_001190266.1:c.951+3488G>T	NP_001177195.1:n.951+3488G>T
NM_001190267.1:c.855+3488G>T	NP_001177196.1:n.855+3488G>T
NM_017974.3:c.1146+3488G>T	NP_060444.3:n.1146+3488G>T
NM_030803.6:c.1203+3488G>T	NP_110430.5:n.1203+3488G>T
NM_198890.2:c.714+3488G>T	NP_942593.2:n.714+3488G>T
XM_005246082.1:c.1254+3488G>T	XP_005246139.1:n.1254+3488G>T
XM_005246084.1:c.822+3488G>T	XP_005246141.1:n.822+3488G>T
XM_005246086.1:c.771+3488G>T	XP_005246143.1:n.771+3488G>T
XM_006712608.1:c.1002+3488G>T	XP_006712671.1:n.1002+3488G>T
XR_241242.1:n.1448+3488G>T
NM_001363742.1:c.1254+3488G>T	NP_001350671.1:n.1254+3488G>T
XM_005246084.2:c.822+3488G>T	XP_005246141.1:n.822+3488G>T
XM_005246086.2:c.771+3488G>T	XP_005246143.1:n.771+3488G>T
XM_006712608.3:c.1002+3488G>T	XP_006712671.1:n.1002+3488G>T
XR_001738801.2:n.1384+3488G>T
XR_241242.3:n.1435+3488G>T
NM_030803.7:c.1203+3488G>T MANE Select	NP_110430.5:n.1203+3488G>T
NM_001190266.2:c.951+3488G>T	NP_001177195.1:n.951+3488G>T
NM_001190267.2:c.855+3488G>T	NP_001177196.1:n.855+3488G>T
NM_001363742.2:c.1254+3488G>T	NP_001350671.1:n.1254+3488G>T
NM_017974.4:c.1146+3488G>T	NP_060444.3:n.1146+3488G>T
NM_198890.3:c.714+3488G>T	NP_942593.2:n.714+3488G>T