Canonical Allele Identifier: CA351046385

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183380T>G (hg19) ; chr2:g.233274734T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274734T>G , CM000664.2:g.233274734T>G	GRCh38
NC_000002.11:g.234183380T>G , CM000664.1:g.234183380T>G	GRCh37
NC_000002.10:g.233848119T>G	NCBI36
NG_023038.1:g.28164T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.910T>G MANE Select	ENSP00000375872.4:p.Ser304Ala
ENST00000347464.9:c.421T>G	ENSP00000318259.6:p.Ser141Ala
ENST00000373525.9:c.478T>G	ENSP00000362625.5:p.Ser160Ala
ENST00000392017.8:c.910T>G	ENSP00000375872.4:p.Ser304Ala
ENST00000392018.1:c.961T>G	ENSP00000375873.1:p.Ser321Ala
ENST00000392020.8:c.853T>G	ENSP00000375875.4:p.Ser285Ala
ENST00000392021.7:c.*791T>G	ENSP00000375876.3:n.*791T>G
ENST00000419681.5:c.421T>G	ENSP00000398773.1:p.Ser141Ala
ENST00000444735.5:c.529T>G	ENSP00000409215.1:p.Ser177Ala
ENST00000474148.5:n.1705T>G
ENST00000479942.5:n.1056T>G
ENST00000492298.5:n.431T>G
ENST00000498620.5:n.417T>G
NM_001190266.1:c.658T>G	NP_001177195.1:p.Ser220Ala
NM_001190267.1:c.562T>G	NP_001177196.1:p.Ser188Ala
NM_017974.3:c.853T>G	NP_060444.3:p.Ser285Ala
NM_030803.6:c.910T>G	NP_110430.5:p.Ser304Ala
NM_198890.2:c.421T>G	NP_942593.2:p.Ser141Ala
XM_005246082.1:c.961T>G	XP_005246139.1:p.Ser321Ala
XM_005246084.1:c.529T>G	XP_005246141.1:p.Ser177Ala
XM_005246086.1:c.478T>G	XP_005246143.1:p.Ser160Ala
XM_006712608.1:c.709T>G	XP_006712671.1:p.Ser237Ala
XR_241242.1:n.1155T>G
NM_001363742.1:c.961T>G	NP_001350671.1:p.Ser321Ala
XM_005246084.2:c.529T>G	XP_005246141.1:p.Ser177Ala
XM_005246086.2:c.478T>G	XP_005246143.1:p.Ser160Ala
XM_006712608.3:c.709T>G	XP_006712671.1:p.Ser237Ala
XR_001738801.2:n.1091T>G
XR_241242.3:n.1142T>G
NM_030803.7:c.910T>G MANE Select	NP_110430.5:p.Ser304Ala
NM_001190266.2:c.658T>G	NP_001177195.1:p.Ser220Ala
NM_001190267.2:c.562T>G	NP_001177196.1:p.Ser188Ala
NM_001363742.2:c.961T>G	NP_001350671.1:p.Ser321Ala
NM_017974.4:c.853T>G	NP_060444.3:p.Ser285Ala
NM_198890.3:c.421T>G	NP_942593.2:p.Ser141Ala