Canonical Allele Identifier: CA16029962

Gene: APC

Linked Data

• ClinVar Variation Id: 2754592
• ClinVar RCV Id: RCV003536815
• gnomAD v4: 5-112839525-A-T
• MyVariant Identifiers: chr5:g.112175222A>T (hg19) ; chr5:g.112839525A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839525A>T , CM000667.2:g.112839525A>T	GRCh38
NC_000005.9:g.112175222A>T , CM000667.1:g.112175222A>T	GRCh37
NC_000005.8:g.112203121A>T	NCBI36
NG_008481.4:g.152005A>T , LRG_130:g.152005A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.3596A>T	ENSP00000484935.2:n.3596A>T
ENST00000504915.3:c.3985A>T	ENSP00000473355.2:p.Ile1329Phe
ENST00000505350.2:c.*3937A>T	ENSP00000481752.1:n.*3937A>T
ENST00000507379.6:c.3877A>T	ENSP00000423224.2:p.Ile1293Phe
ENST00000509732.6:c.3931A>T	ENSP00000426541.2:p.Ile1311Phe
ENST00000512211.7:c.3931A>T	ENSP00000423828.3:p.Ile1311Phe
ENST00000257430.9:c.3931A>T MANE Select	ENSP00000257430.4:p.Ile1311Phe
ENST00000257430.8:c.3931A>T	ENSP00000257430.4:p.Ile1311Phe
ENST00000502371.2:c.2284A>T
ENST00000508376.6:c.3931A>T	ENSP00000427089.2:p.Ile1311Phe
ENST00000508624.5:c.*3253A>T	ENSP00000424265.1:n.*3253A>T
ENST00000520401.1:c.230+10553A>T
NM_000038.5:c.3931A>T	NP_000029.2:p.Ile1311Phe
NM_001127510.2:c.3931A>T	NP_001120982.1:p.Ile1311Phe
NM_001127511.2:c.3877A>T	NP_001120983.2:p.Ile1293Phe
NM_001354895.1:c.3931A>T	NP_001341824.1:p.Ile1311Phe
NM_001354896.1:c.3985A>T	NP_001341825.1:p.Ile1329Phe
NM_001354897.1:c.3961A>T	NP_001341826.1:p.Ile1321Phe
NM_001354898.1:c.3856A>T	NP_001341827.1:p.Ile1286Phe
NM_001354899.1:c.3847A>T	NP_001341828.1:p.Ile1283Phe
NM_001354900.1:c.3808A>T	NP_001341829.1:p.Ile1270Phe
NM_001354901.1:c.3754A>T	NP_001341830.1:p.Ile1252Phe
NM_001354902.1:c.3658A>T	NP_001341831.1:p.Ile1220Phe
NM_001354903.1:c.3628A>T	NP_001341832.1:p.Ile1210Phe
NM_001354904.1:c.3553A>T	NP_001341833.1:p.Ile1185Phe
NM_001354905.1:c.3451A>T	NP_001341834.1:p.Ile1151Phe
NM_001354906.1:c.3082A>T	NP_001341835.1:p.Ile1028Phe
NM_000038.6:c.3931A>T MANE Select	NP_000029.2:p.Ile1311Phe
NM_001127510.3:c.3931A>T	NP_001120982.1:p.Ile1311Phe
NM_001127511.3:c.3877A>T	NP_001120983.2:p.Ile1293Phe
NM_001354895.2:c.3931A>T	NP_001341824.1:p.Ile1311Phe
NM_001354896.2:c.3985A>T	NP_001341825.1:p.Ile1329Phe
NM_001354897.2:c.3961A>T	NP_001341826.1:p.Ile1321Phe
NM_001354898.2:c.3856A>T	NP_001341827.1:p.Ile1286Phe
NM_001354899.2:c.3847A>T	NP_001341828.1:p.Ile1283Phe
NM_001354900.2:c.3808A>T	NP_001341829.1:p.Ile1270Phe
NM_001354901.2:c.3754A>T	NP_001341830.1:p.Ile1252Phe
NM_001354902.2:c.3658A>T	NP_001341831.1:p.Ile1220Phe
NM_001354903.2:c.3628A>T	NP_001341832.1:p.Ile1210Phe
NM_001354904.2:c.3553A>T	NP_001341833.1:p.Ile1185Phe
NM_001354905.2:c.3451A>T	NP_001341834.1:p.Ile1151Phe
NM_001354906.2:c.3082A>T	NP_001341835.1:p.Ile1028Phe