Canonical Allele Identifier: CA431820899
Gene: ATG16L1 HGNC NCBI
SCARNA5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.234184384A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233275738A>C , CM000664.2:g.233275738A>C GRCh38
NC_000002.11:g.234184384A>C , CM000664.1:g.234184384A>C GRCh37
NC_000002.10:g.233849123A>C NCBI36
NG_023038.1:g.29168A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.954+960A>C (ATG16L1) MANE Select ENSP00000375872.4:n.954+960A>C
ENST00000347464.9:c.465+960A>C (ATG16L1) ENSP00000318259.6:n.465+960A>C
ENST00000373525.9:c.522+960A>C (ATG16L1) ENSP00000362625.5:n.522+960A>C
ENST00000392017.8:c.954+960A>C (ATG16L1) ENSP00000375872.4:n.954+960A>C
ENST00000392018.1:c.1005+960A>C (ATG16L1) ENSP00000375873.1:n.1005+960A>C
ENST00000392020.8:c.897+960A>C (ATG16L1) ENSP00000375875.4:n.897+960A>C
ENST00000392021.7:c.*835+960A>C (ATG16L1) ENSP00000375876.3:n.*835+960A>C
ENST00000419681.5:c.465+960A>C (ATG16L1) ENSP00000398773.1:n.465+960A>C
ENST00000464645.5:n.89+271A>C (ATG16L1)
ENST00000474148.5:n.1749+960A>C (ATG16L1)
ENST00000479942.5:n.1100+960A>C (ATG16L1)
ENST00000492298.5:n.475+960A>C (ATG16L1)
ENST00000498620.5:n.461+960A>C (ATG16L1)
NM_001190266.1:c.702+960A>C (ATG16L1) NP_001177195.1:n.702+960A>C
NM_001190267.1:c.606+960A>C (ATG16L1) NP_001177196.1:n.606+960A>C
NM_017974.3:c.897+960A>C (ATG16L1) NP_060444.3:n.897+960A>C
NM_030803.6:c.954+960A>C (ATG16L1) NP_110430.5:n.954+960A>C
NM_198890.2:c.465+960A>C (ATG16L1) NP_942593.2:n.465+960A>C
NR_003008.2:n.13A>C (SCARNA5)
XM_005246082.1:c.1005+960A>C (ATG16L1) XP_005246139.1:n.1005+960A>C
XM_005246084.1:c.573+960A>C (ATG16L1) XP_005246141.1:n.573+960A>C
XM_005246086.1:c.522+960A>C (ATG16L1) XP_005246143.1:n.522+960A>C
XM_006712608.1:c.753+960A>C (ATG16L1) XP_006712671.1:n.753+960A>C
XR_241242.1:n.1199+960A>C (ATG16L1)
NM_001363742.1:c.1005+960A>C (ATG16L1) NP_001350671.1:n.1005+960A>C
XM_005246084.2:c.573+960A>C (ATG16L1) XP_005246141.1:n.573+960A>C
XM_005246086.2:c.522+960A>C (ATG16L1) XP_005246143.1:n.522+960A>C
XM_006712608.3:c.753+960A>C (ATG16L1) XP_006712671.1:n.753+960A>C
XR_001738801.2:n.1135+960A>C (ATG16L1)
XR_241242.3:n.1186+960A>C (ATG16L1)
NM_030803.7:c.954+960A>C (ATG16L1) MANE Select NP_110430.5:n.954+960A>C
NM_001190266.2:c.702+960A>C (ATG16L1) NP_001177195.1:n.702+960A>C
NM_001190267.2:c.606+960A>C (ATG16L1) NP_001177196.1:n.606+960A>C
NM_001363742.2:c.1005+960A>C (ATG16L1) NP_001350671.1:n.1005+960A>C
NM_017974.4:c.897+960A>C (ATG16L1) NP_060444.3:n.897+960A>C
NM_198890.3:c.465+960A>C (ATG16L1) NP_942593.2:n.465+960A>C