Canonical Allele Identifier: CA035066

Gene: APC

Linked Data

• ClinVar Variation Id: 823620
• ClinVar RCV Id: RCV001020016 ; RCV003649210
• dbSNP Id: rs759718547
• ExAC: 5:112174625 A / G
• gnomAD v2: 5-112174625-A-G
• gnomAD v4: 5-112838928-A-G
• MyVariant Identifiers: chr5:g.112174625A>G (hg19) ; chr5:g.112838928A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838928A>G , CM000667.2:g.112838928A>G	GRCh38
NC_000005.9:g.112174625A>G , CM000667.1:g.112174625A>G	GRCh37
NC_000005.8:g.112202524A>G	NCBI36
NG_008481.4:g.151408A>G , LRG_130:g.151408A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2999A>G	ENSP00000484935.2:n.2999A>G
ENST00000504915.3:c.3388A>G	ENSP00000473355.2:p.Thr1130Ala
ENST00000505350.2:c.*3340A>G	ENSP00000481752.1:n.*3340A>G
ENST00000507379.6:c.3280A>G	ENSP00000423224.2:p.Thr1094Ala
ENST00000509732.6:c.3334A>G	ENSP00000426541.2:p.Thr1112Ala
ENST00000512211.7:c.3334A>G	ENSP00000423828.3:p.Thr1112Ala
ENST00000257430.9:c.3334A>G MANE Select	ENSP00000257430.4:p.Thr1112Ala
ENST00000257430.8:c.3334A>G	ENSP00000257430.4:p.Thr1112Ala
ENST00000502371.2:c.1687A>G
ENST00000507379.5:c.3280A>G	ENSP00000423224.1:p.Thr1094Ala
ENST00000508376.6:c.3334A>G	ENSP00000427089.2:p.Thr1112Ala
ENST00000508624.5:c.*2656A>G	ENSP00000424265.1:n.*2656A>G
ENST00000512211.6:c.3334A>G	ENSP00000423828.2:p.Thr1112Ala
ENST00000520401.1:c.230+9956A>G
NM_000038.5:c.3334A>G	NP_000029.2:p.Thr1112Ala
NM_001127510.2:c.3334A>G	NP_001120982.1:p.Thr1112Ala
NM_001127511.2:c.3280A>G	NP_001120983.2:p.Thr1094Ala
NM_001354895.1:c.3334A>G	NP_001341824.1:p.Thr1112Ala
NM_001354896.1:c.3388A>G	NP_001341825.1:p.Thr1130Ala
NM_001354897.1:c.3364A>G	NP_001341826.1:p.Thr1122Ala
NM_001354898.1:c.3259A>G	NP_001341827.1:p.Thr1087Ala
NM_001354899.1:c.3250A>G	NP_001341828.1:p.Thr1084Ala
NM_001354900.1:c.3211A>G	NP_001341829.1:p.Thr1071Ala
NM_001354901.1:c.3157A>G	NP_001341830.1:p.Thr1053Ala
NM_001354902.1:c.3061A>G	NP_001341831.1:p.Thr1021Ala
NM_001354903.1:c.3031A>G	NP_001341832.1:p.Thr1011Ala
NM_001354904.1:c.2956A>G	NP_001341833.1:p.Thr986Ala
NM_001354905.1:c.2854A>G	NP_001341834.1:p.Thr952Ala
NM_001354906.1:c.2485A>G	NP_001341835.1:p.Thr829Ala
NM_000038.6:c.3334A>G MANE Select	NP_000029.2:p.Thr1112Ala
NM_001127510.3:c.3334A>G	NP_001120982.1:p.Thr1112Ala
NM_001127511.3:c.3280A>G	NP_001120983.2:p.Thr1094Ala
NM_001354895.2:c.3334A>G	NP_001341824.1:p.Thr1112Ala
NM_001354896.2:c.3388A>G	NP_001341825.1:p.Thr1130Ala
NM_001354897.2:c.3364A>G	NP_001341826.1:p.Thr1122Ala
NM_001354898.2:c.3259A>G	NP_001341827.1:p.Thr1087Ala
NM_001354899.2:c.3250A>G	NP_001341828.1:p.Thr1084Ala
NM_001354900.2:c.3211A>G	NP_001341829.1:p.Thr1071Ala
NM_001354901.2:c.3157A>G	NP_001341830.1:p.Thr1053Ala
NM_001354902.2:c.3061A>G	NP_001341831.1:p.Thr1021Ala
NM_001354903.2:c.3031A>G	NP_001341832.1:p.Thr1011Ala
NM_001354904.2:c.2956A>G	NP_001341833.1:p.Thr986Ala
NM_001354905.2:c.2854A>G	NP_001341834.1:p.Thr952Ala
NM_001354906.2:c.2485A>G	NP_001341835.1:p.Thr829Ala