Canonical Allele Identifier: CA16037511

Gene: APC

Linked Data

• dbSNP Id: rs369365383
• gnomAD v4: 5-112843029-G-C
• MyVariant Identifiers: chr5:g.112178726G>C (hg19) ; chr5:g.112843029G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843029G>C , CM000667.2:g.112843029G>C	GRCh38
NC_000005.9:g.112178726G>C , CM000667.1:g.112178726G>C	GRCh37
NC_000005.8:g.112206625G>C	NCBI36
NG_008481.4:g.155509G>C , LRG_130:g.155509G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7489G>C	ENSP00000473355.2:p.Ala2497Pro
ENST00000505350.2:c.*7441G>C	ENSP00000481752.1:n.*7441G>C
ENST00000507379.6:c.7381G>C	ENSP00000423224.2:p.Ala2461Pro
ENST00000509732.6:c.7435G>C	ENSP00000426541.2:p.Ala2479Pro
ENST00000512211.7:c.7435G>C	ENSP00000423828.3:p.Ala2479Pro
ENST00000257430.9:c.7435G>C MANE Select	ENSP00000257430.4:p.Ala2479Pro
ENST00000257430.8:c.7435G>C	ENSP00000257430.4:p.Ala2479Pro
ENST00000508376.6:c.7435G>C	ENSP00000427089.2:p.Ala2479Pro
ENST00000520401.1:c.231-13620G>C
NM_000038.5:c.7435G>C	NP_000029.2:p.Ala2479Pro
NM_001127510.2:c.7435G>C	NP_001120982.1:p.Ala2479Pro
NM_001127511.2:c.7381G>C	NP_001120983.2:p.Ala2461Pro
NM_001354895.1:c.7435G>C	NP_001341824.1:p.Ala2479Pro
NM_001354896.1:c.7489G>C	NP_001341825.1:p.Ala2497Pro
NM_001354897.1:c.7465G>C	NP_001341826.1:p.Ala2489Pro
NM_001354898.1:c.7360G>C	NP_001341827.1:p.Ala2454Pro
NM_001354899.1:c.7351G>C	NP_001341828.1:p.Ala2451Pro
NM_001354900.1:c.7312G>C	NP_001341829.1:p.Ala2438Pro
NM_001354901.1:c.7258G>C	NP_001341830.1:p.Ala2420Pro
NM_001354902.1:c.7162G>C	NP_001341831.1:p.Ala2388Pro
NM_001354903.1:c.7132G>C	NP_001341832.1:p.Ala2378Pro
NM_001354904.1:c.7057G>C	NP_001341833.1:p.Ala2353Pro
NM_001354905.1:c.6955G>C	NP_001341834.1:p.Ala2319Pro
NM_001354906.1:c.6586G>C	NP_001341835.1:p.Ala2196Pro
NM_000038.6:c.7435G>C MANE Select	NP_000029.2:p.Ala2479Pro
NM_001127510.3:c.7435G>C	NP_001120982.1:p.Ala2479Pro
NM_001127511.3:c.7381G>C	NP_001120983.2:p.Ala2461Pro
NM_001354895.2:c.7435G>C	NP_001341824.1:p.Ala2479Pro
NM_001354896.2:c.7489G>C	NP_001341825.1:p.Ala2497Pro
NM_001354897.2:c.7465G>C	NP_001341826.1:p.Ala2489Pro
NM_001354898.2:c.7360G>C	NP_001341827.1:p.Ala2454Pro
NM_001354899.2:c.7351G>C	NP_001341828.1:p.Ala2451Pro
NM_001354900.2:c.7312G>C	NP_001341829.1:p.Ala2438Pro
NM_001354901.2:c.7258G>C	NP_001341830.1:p.Ala2420Pro
NM_001354902.2:c.7162G>C	NP_001341831.1:p.Ala2388Pro
NM_001354903.2:c.7132G>C	NP_001341832.1:p.Ala2378Pro
NM_001354904.2:c.7057G>C	NP_001341833.1:p.Ala2353Pro
NM_001354905.2:c.6955G>C	NP_001341834.1:p.Ala2319Pro
NM_001354906.2:c.6586G>C	NP_001341835.1:p.Ala2196Pro