Canonical Allele Identifier: CA351046697

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183419G>C (hg19) ; chr2:g.233274773G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274773G>C , CM000664.2:g.233274773G>C	GRCh38
NC_000002.11:g.234183419G>C , CM000664.1:g.234183419G>C	GRCh37
NC_000002.10:g.233848158G>C	NCBI36
NG_023038.1:g.28203G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.949G>C MANE Select	ENSP00000375872.4:p.Val317Leu
ENST00000347464.9:c.460G>C	ENSP00000318259.6:p.Val154Leu
ENST00000373525.9:c.517G>C	ENSP00000362625.5:p.Val173Leu
ENST00000392017.8:c.949G>C	ENSP00000375872.4:p.Val317Leu
ENST00000392018.1:c.1000G>C	ENSP00000375873.1:p.Val334Leu
ENST00000392020.8:c.892G>C	ENSP00000375875.4:p.Val298Leu
ENST00000392021.7:c.*830G>C	ENSP00000375876.3:n.*830G>C
ENST00000419681.5:c.460G>C	ENSP00000398773.1:p.Val154Leu
ENST00000474148.5:n.1744G>C
ENST00000479942.5:n.1095G>C
ENST00000492298.5:n.470G>C
ENST00000498620.5:n.456G>C
NM_001190266.1:c.697G>C	NP_001177195.1:p.Val233Leu
NM_001190267.1:c.601G>C	NP_001177196.1:p.Val201Leu
NM_017974.3:c.892G>C	NP_060444.3:p.Val298Leu
NM_030803.6:c.949G>C	NP_110430.5:p.Val317Leu
NM_198890.2:c.460G>C	NP_942593.2:p.Val154Leu
XM_005246082.1:c.1000G>C	XP_005246139.1:p.Val334Leu
XM_005246084.1:c.568G>C	XP_005246141.1:p.Val190Leu
XM_005246086.1:c.517G>C	XP_005246143.1:p.Val173Leu
XM_006712608.1:c.748G>C	XP_006712671.1:p.Val250Leu
XR_241242.1:n.1194G>C
NM_001363742.1:c.1000G>C	NP_001350671.1:p.Val334Leu
XM_005246084.2:c.568G>C	XP_005246141.1:p.Val190Leu
XM_005246086.2:c.517G>C	XP_005246143.1:p.Val173Leu
XM_006712608.3:c.748G>C	XP_006712671.1:p.Val250Leu
XR_001738801.2:n.1130G>C
XR_241242.3:n.1181G>C
NM_030803.7:c.949G>C MANE Select	NP_110430.5:p.Val317Leu
NM_001190266.2:c.697G>C	NP_001177195.1:p.Val233Leu
NM_001190267.2:c.601G>C	NP_001177196.1:p.Val201Leu
NM_001363742.2:c.1000G>C	NP_001350671.1:p.Val334Leu
NM_017974.4:c.892G>C	NP_060444.3:p.Val298Leu
NM_198890.3:c.460G>C	NP_942593.2:p.Val154Leu