Canonical Allele Identifier: CA11265953

Gene: ATG16L1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233281403T>C , CM000664.2:g.233281403T>C	GRCh38
NC_000002.11:g.234190049T>C , CM000664.1:g.234190049T>C	GRCh37
NC_000002.10:g.233854788T>C	NCBI36
NG_023038.1:g.34833T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.1131+228T>C MANE Select	ENSP00000375872.4:n.1131+228T>C
ENST00000347464.9:c.642+228T>C	ENSP00000318259.6:n.642+228T>C
ENST00000373525.9:c.594+228T>C	ENSP00000362625.5:n.594+228T>C
ENST00000392017.8:c.1131+228T>C	ENSP00000375872.4:n.1131+228T>C
ENST00000392018.1:c.1182+228T>C	ENSP00000375873.1:n.1182+228T>C
ENST00000392020.8:c.1074+228T>C	ENSP00000375875.4:n.1074+228T>C
ENST00000392021.7:c.*1012+228T>C	ENSP00000375876.3:n.*1012+228T>C
ENST00000464645.5:n.266+228T>C
ENST00000472242.1:n.597+228T>C
ENST00000474148.5:n.1926+228T>C
ENST00000479942.5:n.1277+228T>C
ENST00000498620.5:n.638+228T>C
NM_001190266.1:c.879+228T>C	NP_001177195.1:n.879+228T>C
NM_001190267.1:c.783+228T>C	NP_001177196.1:n.783+228T>C
NM_017974.3:c.1074+228T>C	NP_060444.3:n.1074+228T>C
NM_030803.6:c.1131+228T>C	NP_110430.5:n.1131+228T>C
NM_198890.2:c.642+228T>C	NP_942593.2:n.642+228T>C
XM_005246082.1:c.1182+228T>C	XP_005246139.1:n.1182+228T>C
XM_005246084.1:c.750+228T>C	XP_005246141.1:n.750+228T>C
XM_005246086.1:c.699+228T>C	XP_005246143.1:n.699+228T>C
XM_006712608.1:c.930+228T>C	XP_006712671.1:n.930+228T>C
XR_241242.1:n.1376+228T>C
NM_001363742.1:c.1182+228T>C	NP_001350671.1:n.1182+228T>C
XM_005246084.2:c.750+228T>C	XP_005246141.1:n.750+228T>C
XM_005246086.2:c.699+228T>C	XP_005246143.1:n.699+228T>C
XM_006712608.3:c.930+228T>C	XP_006712671.1:n.930+228T>C
XR_001738801.2:n.1312+228T>C
XR_241242.3:n.1363+228T>C
NM_030803.7:c.1131+228T>C MANE Select	NP_110430.5:n.1131+228T>C
NM_001190266.2:c.879+228T>C	NP_001177195.1:n.879+228T>C
NM_001190267.2:c.783+228T>C	NP_001177196.1:n.783+228T>C
NM_001363742.2:c.1182+228T>C	NP_001350671.1:n.1182+228T>C
NM_017974.4:c.1074+228T>C	NP_060444.3:n.1074+228T>C
NM_198890.3:c.642+228T>C	NP_942593.2:n.642+228T>C