Canonical Allele Identifier: CA351046208

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183335T>C (hg19) ; chr2:g.233274689T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274689T>C , CM000664.2:g.233274689T>C	GRCh38
NC_000002.11:g.234183335T>C , CM000664.1:g.234183335T>C	GRCh37
NC_000002.10:g.233848074T>C	NCBI36
NG_023038.1:g.28119T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.865T>C MANE Select	ENSP00000375872.4:p.Ser289Pro
ENST00000347464.9:c.376T>C	ENSP00000318259.6:p.Ser126Pro
ENST00000373525.9:c.433T>C	ENSP00000362625.5:p.Ser145Pro
ENST00000392017.8:c.865T>C	ENSP00000375872.4:p.Ser289Pro
ENST00000392018.1:c.916T>C	ENSP00000375873.1:p.Ser306Pro
ENST00000392020.8:c.808T>C	ENSP00000375875.4:p.Ser270Pro
ENST00000392021.7:c.*746T>C	ENSP00000375876.3:n.*746T>C
ENST00000419681.5:c.376T>C	ENSP00000398773.1:p.Ser126Pro
ENST00000444735.5:c.484T>C	ENSP00000409215.1:p.Ser162Pro
ENST00000474148.5:n.1660T>C
ENST00000479942.5:n.1011T>C
ENST00000492298.5:n.386T>C
ENST00000498620.5:n.372T>C
NM_001190266.1:c.613T>C	NP_001177195.1:p.Ser205Pro
NM_001190267.1:c.517T>C	NP_001177196.1:p.Ser173Pro
NM_017974.3:c.808T>C	NP_060444.3:p.Ser270Pro
NM_030803.6:c.865T>C	NP_110430.5:p.Ser289Pro
NM_198890.2:c.376T>C	NP_942593.2:p.Ser126Pro
XM_005246082.1:c.916T>C	XP_005246139.1:p.Ser306Pro
XM_005246084.1:c.484T>C	XP_005246141.1:p.Ser162Pro
XM_005246086.1:c.433T>C	XP_005246143.1:p.Ser145Pro
XM_006712608.1:c.664T>C	XP_006712671.1:p.Ser222Pro
XR_241242.1:n.1110T>C
NM_001363742.1:c.916T>C	NP_001350671.1:p.Ser306Pro
XM_005246084.2:c.484T>C	XP_005246141.1:p.Ser162Pro
XM_005246086.2:c.433T>C	XP_005246143.1:p.Ser145Pro
XM_006712608.3:c.664T>C	XP_006712671.1:p.Ser222Pro
XR_001738801.2:n.1046T>C
XR_241242.3:n.1097T>C
NM_030803.7:c.865T>C MANE Select	NP_110430.5:p.Ser289Pro
NM_001190266.2:c.613T>C	NP_001177195.1:p.Ser205Pro
NM_001190267.2:c.517T>C	NP_001177196.1:p.Ser173Pro
NM_001363742.2:c.916T>C	NP_001350671.1:p.Ser306Pro
NM_017974.4:c.808T>C	NP_060444.3:p.Ser270Pro
NM_198890.3:c.376T>C	NP_942593.2:p.Ser126Pro