Canonical Allele Identifier: CA026910

Gene: APC

Linked Data

• ClinVar Variation Id: 217920
• ClinVar RCV Id: RCV000202029 ; RCV000466853 ; RCV000571880 ; RCV000657057 ; RCV003534474 ; RCV003997040
• dbSNP Id: rs756336949
• ExAC: 5:112154972 G / A
• gnomAD v2: 5-112154972-G-A
• gnomAD v3: 5-112819275-G-A
• gnomAD v4: 5-112819275-G-A
• MyVariant Identifiers: chr5:g.112154972G>A (hg19) ; chr5:g.112819275G>A (hg38)
• PubMed: PMID:25980754 ; PMID:27443514 ; PMID:27978560

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112819275G>A , CM000667.2:g.112819275G>A	GRCh38
NC_000005.9:g.112154972G>A , CM000667.1:g.112154972G>A	GRCh37
NC_000005.8:g.112182871G>A	NCBI36
NG_008481.4:g.131755G>A , LRG_130:g.131755G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1243G>A	ENSP00000484935.2:p.Ala415Thr
ENST00000504915.3:c.1243G>A	ENSP00000473355.2:p.Ala415Thr
ENST00000505084.2:n.1299G>A
ENST00000505350.2:c.*1249G>A	ENSP00000481752.1:n.*1249G>A
ENST00000507379.6:c.1189G>A	ENSP00000423224.2:p.Ala397Thr
ENST00000509732.6:c.1243G>A	ENSP00000426541.2:p.Ala415Thr
ENST00000512211.7:c.1243G>A	ENSP00000423828.3:p.Ala415Thr
ENST00000257430.9:c.1243G>A MANE Select	ENSP00000257430.4:p.Ala415Thr
ENST00000257430.8:c.1243G>A	ENSP00000257430.4:p.Ala415Thr
ENST00000507379.5:c.1189G>A	ENSP00000423224.1:p.Ala397Thr
ENST00000508376.6:c.1243G>A	ENSP00000427089.2:p.Ala415Thr
ENST00000508624.5:c.*565G>A	ENSP00000424265.1:n.*565G>A
ENST00000512211.6:c.1243G>A	ENSP00000423828.2:p.Ala415Thr
NM_000038.5:c.1243G>A	NP_000029.2:p.Ala415Thr
NM_001127510.2:c.1243G>A	NP_001120982.1:p.Ala415Thr
NM_001127511.2:c.1189G>A	NP_001120983.2:p.Ala397Thr
NM_001354895.1:c.1243G>A	NP_001341824.1:p.Ala415Thr
NM_001354896.1:c.1243G>A	NP_001341825.1:p.Ala415Thr
NM_001354897.1:c.1273G>A	NP_001341826.1:p.Ala425Thr
NM_001354898.1:c.1168G>A	NP_001341827.1:p.Ala390Thr
NM_001354899.1:c.1159G>A	NP_001341828.1:p.Ala387Thr
NM_001354900.1:c.1066G>A	NP_001341829.1:p.Ala356Thr
NM_001354901.1:c.1066G>A	NP_001341830.1:p.Ala356Thr
NM_001354902.1:c.970G>A	NP_001341831.1:p.Ala324Thr
NM_001354903.1:c.940G>A	NP_001341832.1:p.Ala314Thr
NM_001354904.1:c.865G>A	NP_001341833.1:p.Ala289Thr
NM_001354905.1:c.763G>A	NP_001341834.1:p.Ala255Thr
NM_001354906.1:c.394G>A	NP_001341835.1:p.Ala132Thr
NM_000038.6:c.1243G>A MANE Select	NP_000029.2:p.Ala415Thr
NM_001127510.3:c.1243G>A	NP_001120982.1:p.Ala415Thr
NM_001127511.3:c.1189G>A	NP_001120983.2:p.Ala397Thr
NM_001354895.2:c.1243G>A	NP_001341824.1:p.Ala415Thr
NM_001354896.2:c.1243G>A	NP_001341825.1:p.Ala415Thr
NM_001354897.2:c.1273G>A	NP_001341826.1:p.Ala425Thr
NM_001354898.2:c.1168G>A	NP_001341827.1:p.Ala390Thr
NM_001354899.2:c.1159G>A	NP_001341828.1:p.Ala387Thr
NM_001354900.2:c.1066G>A	NP_001341829.1:p.Ala356Thr
NM_001354901.2:c.1066G>A	NP_001341830.1:p.Ala356Thr
NM_001354902.2:c.970G>A	NP_001341831.1:p.Ala324Thr
NM_001354903.2:c.940G>A	NP_001341832.1:p.Ala314Thr
NM_001354904.2:c.865G>A	NP_001341833.1:p.Ala289Thr
NM_001354905.2:c.763G>A	NP_001341834.1:p.Ala255Thr
NM_001354906.2:c.394G>A	NP_001341835.1:p.Ala132Thr