Canonical Allele Identifier: CA351046674

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183408C>G (hg19) ; chr2:g.233274762C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274762C>G , CM000664.2:g.233274762C>G	GRCh38
NC_000002.11:g.234183408C>G , CM000664.1:g.234183408C>G	GRCh37
NC_000002.10:g.233848147C>G	NCBI36
NG_023038.1:g.28192C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.938C>G MANE Select	ENSP00000375872.4:p.Thr313Ser
ENST00000347464.9:c.449C>G	ENSP00000318259.6:p.Thr150Ser
ENST00000373525.9:c.506C>G	ENSP00000362625.5:p.Thr169Ser
ENST00000392017.8:c.938C>G	ENSP00000375872.4:p.Thr313Ser
ENST00000392018.1:c.989C>G	ENSP00000375873.1:p.Thr330Ser
ENST00000392020.8:c.881C>G	ENSP00000375875.4:p.Thr294Ser
ENST00000392021.7:c.*819C>G	ENSP00000375876.3:n.*819C>G
ENST00000419681.5:c.449C>G	ENSP00000398773.1:p.Thr150Ser
ENST00000474148.5:n.1733C>G
ENST00000479942.5:n.1084C>G
ENST00000492298.5:n.459C>G
ENST00000498620.5:n.445C>G
NM_001190266.1:c.686C>G	NP_001177195.1:p.Thr229Ser
NM_001190267.1:c.590C>G	NP_001177196.1:p.Thr197Ser
NM_017974.3:c.881C>G	NP_060444.3:p.Thr294Ser
NM_030803.6:c.938C>G	NP_110430.5:p.Thr313Ser
NM_198890.2:c.449C>G	NP_942593.2:p.Thr150Ser
XM_005246082.1:c.989C>G	XP_005246139.1:p.Thr330Ser
XM_005246084.1:c.557C>G	XP_005246141.1:p.Thr186Ser
XM_005246086.1:c.506C>G	XP_005246143.1:p.Thr169Ser
XM_006712608.1:c.737C>G	XP_006712671.1:p.Thr246Ser
XR_241242.1:n.1183C>G
NM_001363742.1:c.989C>G	NP_001350671.1:p.Thr330Ser
XM_005246084.2:c.557C>G	XP_005246141.1:p.Thr186Ser
XM_005246086.2:c.506C>G	XP_005246143.1:p.Thr169Ser
XM_006712608.3:c.737C>G	XP_006712671.1:p.Thr246Ser
XR_001738801.2:n.1119C>G
XR_241242.3:n.1170C>G
NM_030803.7:c.938C>G MANE Select	NP_110430.5:p.Thr313Ser
NM_001190266.2:c.686C>G	NP_001177195.1:p.Thr229Ser
NM_001190267.2:c.590C>G	NP_001177196.1:p.Thr197Ser
NM_001363742.2:c.989C>G	NP_001350671.1:p.Thr330Ser
NM_017974.4:c.881C>G	NP_060444.3:p.Thr294Ser
NM_198890.3:c.449C>G	NP_942593.2:p.Thr150Ser