Canonical Allele Identifier: CA351046686

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183414T>C (hg19) ; chr2:g.233274768T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274768T>C , CM000664.2:g.233274768T>C	GRCh38
NC_000002.11:g.234183414T>C , CM000664.1:g.234183414T>C	GRCh37
NC_000002.10:g.233848153T>C	NCBI36
NG_023038.1:g.28198T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.944T>C MANE Select	ENSP00000375872.4:p.Leu315Ser
ENST00000347464.9:c.455T>C	ENSP00000318259.6:p.Leu152Ser
ENST00000373525.9:c.512T>C	ENSP00000362625.5:p.Leu171Ser
ENST00000392017.8:c.944T>C	ENSP00000375872.4:p.Leu315Ser
ENST00000392018.1:c.995T>C	ENSP00000375873.1:p.Leu332Ser
ENST00000392020.8:c.887T>C	ENSP00000375875.4:p.Leu296Ser
ENST00000392021.7:c.*825T>C	ENSP00000375876.3:n.*825T>C
ENST00000419681.5:c.455T>C	ENSP00000398773.1:p.Leu152Ser
ENST00000474148.5:n.1739T>C
ENST00000479942.5:n.1090T>C
ENST00000492298.5:n.465T>C
ENST00000498620.5:n.451T>C
NM_001190266.1:c.692T>C	NP_001177195.1:p.Leu231Ser
NM_001190267.1:c.596T>C	NP_001177196.1:p.Leu199Ser
NM_017974.3:c.887T>C	NP_060444.3:p.Leu296Ser
NM_030803.6:c.944T>C	NP_110430.5:p.Leu315Ser
NM_198890.2:c.455T>C	NP_942593.2:p.Leu152Ser
XM_005246082.1:c.995T>C	XP_005246139.1:p.Leu332Ser
XM_005246084.1:c.563T>C	XP_005246141.1:p.Leu188Ser
XM_005246086.1:c.512T>C	XP_005246143.1:p.Leu171Ser
XM_006712608.1:c.743T>C	XP_006712671.1:p.Leu248Ser
XR_241242.1:n.1189T>C
NM_001363742.1:c.995T>C	NP_001350671.1:p.Leu332Ser
XM_005246084.2:c.563T>C	XP_005246141.1:p.Leu188Ser
XM_005246086.2:c.512T>C	XP_005246143.1:p.Leu171Ser
XM_006712608.3:c.743T>C	XP_006712671.1:p.Leu248Ser
XR_001738801.2:n.1125T>C
XR_241242.3:n.1176T>C
NM_030803.7:c.944T>C MANE Select	NP_110430.5:p.Leu315Ser
NM_001190266.2:c.692T>C	NP_001177195.1:p.Leu231Ser
NM_001190267.2:c.596T>C	NP_001177196.1:p.Leu199Ser
NM_001363742.2:c.995T>C	NP_001350671.1:p.Leu332Ser
NM_017974.4:c.887T>C	NP_060444.3:p.Leu296Ser
NM_198890.3:c.455T>C	NP_942593.2:p.Leu152Ser