Canonical Allele Identifier: CA15159143

Gene: ATG16L1

Linked Data

• dbSNP Id: rs73998327
• gnomAD v2: 2-234183738-A-G
• gnomAD v3: 2-233275092-A-G
• gnomAD v4: 2-233275092-A-G
• MyVariant Identifiers: chr2:g.234183738A>G (hg19) ; chr2:g.233275092A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233275092A>G , CM000664.2:g.233275092A>G	GRCh38
NC_000002.11:g.234183738A>G , CM000664.1:g.234183738A>G	GRCh37
NC_000002.10:g.233848477A>G	NCBI36
NG_023038.1:g.28522A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.954+314A>G MANE Select	ENSP00000375872.4:n.954+314A>G
ENST00000347464.9:c.465+314A>G	ENSP00000318259.6:n.465+314A>G
ENST00000373525.9:c.522+314A>G	ENSP00000362625.5:n.522+314A>G
ENST00000392017.8:c.954+314A>G	ENSP00000375872.4:n.954+314A>G
ENST00000392018.1:c.1005+314A>G	ENSP00000375873.1:n.1005+314A>G
ENST00000392020.8:c.897+314A>G	ENSP00000375875.4:n.897+314A>G
ENST00000392021.7:c.*835+314A>G	ENSP00000375876.3:n.*835+314A>G
ENST00000419681.5:c.465+314A>G	ENSP00000398773.1:n.465+314A>G
ENST00000474148.5:n.1749+314A>G
ENST00000479942.5:n.1100+314A>G
ENST00000492298.5:n.475+314A>G
ENST00000498620.5:n.461+314A>G
NM_001190266.1:c.702+314A>G	NP_001177195.1:n.702+314A>G
NM_001190267.1:c.606+314A>G	NP_001177196.1:n.606+314A>G
NM_017974.3:c.897+314A>G	NP_060444.3:n.897+314A>G
NM_030803.6:c.954+314A>G	NP_110430.5:n.954+314A>G
NM_198890.2:c.465+314A>G	NP_942593.2:n.465+314A>G
XM_005246082.1:c.1005+314A>G	XP_005246139.1:n.1005+314A>G
XM_005246084.1:c.573+314A>G	XP_005246141.1:n.573+314A>G
XM_005246086.1:c.522+314A>G	XP_005246143.1:n.522+314A>G
XM_006712608.1:c.753+314A>G	XP_006712671.1:n.753+314A>G
XR_241242.1:n.1199+314A>G
NM_001363742.1:c.1005+314A>G	NP_001350671.1:n.1005+314A>G
XM_005246084.2:c.573+314A>G	XP_005246141.1:n.573+314A>G
XM_005246086.2:c.522+314A>G	XP_005246143.1:n.522+314A>G
XM_006712608.3:c.753+314A>G	XP_006712671.1:n.753+314A>G
XR_001738801.2:n.1135+314A>G
XR_241242.3:n.1186+314A>G
NM_030803.7:c.954+314A>G MANE Select	NP_110430.5:n.954+314A>G
NM_001190266.2:c.702+314A>G	NP_001177195.1:n.702+314A>G
NM_001190267.2:c.606+314A>G	NP_001177196.1:n.606+314A>G
NM_001363742.2:c.1005+314A>G	NP_001350671.1:n.1005+314A>G
NM_017974.4:c.897+314A>G	NP_060444.3:n.897+314A>G
NM_198890.3:c.465+314A>G	NP_942593.2:n.465+314A>G