Canonical Allele Identifier: CA1043526540

Gene: ATG16L1

Linked Data

• dbSNP Id: rs1431032755
• gnomAD v3: 2-233286334-C-T
• gnomAD v4: 2-233286334-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233286334C>T , CM000664.2:g.233286334C>T	GRCh38
NC_000002.11:g.234194980C>T , CM000664.1:g.234194980C>T	GRCh37
NC_000002.10:g.233859719C>T	NCBI36
NG_023038.1:g.39764C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000392017.9:c.1204-3520C>T MANE Select	ENSP00000375872.4:n.1204-3520C>T
ENST00000347464.9:c.715-3520C>T	ENSP00000318259.6:n.715-3520C>T
ENST00000373525.9:c.667-3520C>T	ENSP00000362625.5:n.667-3520C>T
ENST00000392017.8:c.1204-3520C>T	ENSP00000375872.4:n.1204-3520C>T
ENST00000392018.1:c.1255-3520C>T	ENSP00000375873.1:n.1255-3520C>T
ENST00000392020.8:c.1147-3520C>T	ENSP00000375875.4:n.1147-3520C>T
ENST00000392021.7:c.*1085-3520C>T	ENSP00000375876.3:n.*1085-3520C>T
ENST00000464645.5:n.339-3520C>T
ENST00000474148.5:n.1999-3520C>T
ENST00000479942.5:n.1350-3520C>T
ENST00000498620.5:n.711-3520C>T
NM_001190266.1:c.952-3520C>T	NP_001177195.1:n.952-3520C>T
NM_001190267.1:c.856-3520C>T	NP_001177196.1:n.856-3520C>T
NM_017974.3:c.1147-3520C>T	NP_060444.3:n.1147-3520C>T
NM_030803.6:c.1204-3520C>T	NP_110430.5:n.1204-3520C>T
NM_198890.2:c.715-3520C>T	NP_942593.2:n.715-3520C>T
XM_005246082.1:c.1255-3520C>T	XP_005246139.1:n.1255-3520C>T
XM_005246084.1:c.823-3520C>T	XP_005246141.1:n.823-3520C>T
XM_005246086.1:c.772-3520C>T	XP_005246143.1:n.772-3520C>T
XM_006712608.1:c.1003-3520C>T	XP_006712671.1:n.1003-3520C>T
XR_241242.1:n.1449-3520C>T
NM_001363742.1:c.1255-3520C>T	NP_001350671.1:n.1255-3520C>T
XM_005246084.2:c.823-3520C>T	XP_005246141.1:n.823-3520C>T
XM_005246086.2:c.772-3520C>T	XP_005246143.1:n.772-3520C>T
XM_006712608.3:c.1003-3520C>T	XP_006712671.1:n.1003-3520C>T
XR_001738801.2:n.1385-3520C>T
XR_241242.3:n.1436-3520C>T
NM_030803.7:c.1204-3520C>T MANE Select	NP_110430.5:n.1204-3520C>T
NM_001190266.2:c.952-3520C>T	NP_001177195.1:n.952-3520C>T
NM_001190267.2:c.856-3520C>T	NP_001177196.1:n.856-3520C>T
NM_001363742.2:c.1255-3520C>T	NP_001350671.1:n.1255-3520C>T
NM_017974.4:c.1147-3520C>T	NP_060444.3:n.1147-3520C>T
NM_198890.3:c.715-3520C>T	NP_942593.2:n.715-3520C>T