Canonical Allele Identifier: CA2842820090

Gene: ATG16L1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233264838T>C , CM000664.2:g.233264838T>C	GRCh38
NC_000002.11:g.234173484T>C , CM000664.1:g.234173484T>C	GRCh37
NC_000002.10:g.233838223T>C	NCBI36
NG_023038.1:g.18268T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.390-54T>C MANE Select	ENSP00000375872.4:n.390-54T>C
ENST00000347464.9:c.210-5164T>C	ENSP00000318259.6:n.210-5164T>C
ENST00000373525.9:c.210-5164T>C	ENSP00000362625.5:n.210-5164T>C
ENST00000392017.8:c.390-54T>C	ENSP00000375872.4:n.390-54T>C
ENST00000392018.1:c.390-54T>C	ENSP00000375873.1:n.390-54T>C
ENST00000392020.8:c.390-54T>C	ENSP00000375875.4:n.390-54T>C
ENST00000392021.7:c.*271-54T>C	ENSP00000375876.3:n.*271-54T>C
ENST00000417017.5:c.389+773T>C	ENSP00000412046.1:n.389+773T>C
ENST00000419681.5:c.210-5164T>C	ENSP00000398773.1:n.210-5164T>C
ENST00000431917.5:c.138-54T>C	ENSP00000397512.1:n.138-54T>C
ENST00000444735.5:c.210-5164T>C	ENSP00000409215.1:n.210-5164T>C
ENST00000474148.5:n.517-54T>C
ENST00000479942.5:n.536-54T>C
NM_001190266.1:c.138-54T>C	NP_001177195.1:n.138-54T>C
NM_001190267.1:c.42-54T>C	NP_001177196.1:n.42-54T>C
NM_017974.3:c.390-54T>C	NP_060444.3:n.390-54T>C
NM_030803.6:c.390-54T>C	NP_110430.5:n.390-54T>C
NM_198890.2:c.210-5164T>C	NP_942593.2:n.210-5164T>C
XM_005246082.1:c.390-54T>C	XP_005246139.1:n.390-54T>C
XM_005246084.1:c.210-5164T>C	XP_005246141.1:n.210-5164T>C
XM_005246086.1:c.210-5164T>C	XP_005246143.1:n.210-5164T>C
XM_006712608.1:c.389+773T>C	XP_006712671.1:n.389+773T>C
XR_241242.1:n.584-54T>C
NM_001363742.1:c.390-54T>C	NP_001350671.1:n.390-54T>C
XM_005246084.2:c.210-5164T>C	XP_005246141.1:n.210-5164T>C
XM_005246086.2:c.210-5164T>C	XP_005246143.1:n.210-5164T>C
XM_006712608.3:c.389+773T>C	XP_006712671.1:n.389+773T>C
XR_001738801.2:n.571-54T>C
XR_241242.3:n.571-54T>C
NM_030803.7:c.390-54T>C MANE Select	NP_110430.5:n.390-54T>C
NM_001190266.2:c.138-54T>C	NP_001177195.1:n.138-54T>C
NM_001190267.2:c.42-54T>C	NP_001177196.1:n.42-54T>C
NM_001363742.2:c.390-54T>C	NP_001350671.1:n.390-54T>C
NM_017974.4:c.390-54T>C	NP_060444.3:n.390-54T>C
NM_198890.3:c.210-5164T>C	NP_942593.2:n.210-5164T>C