Canonical Allele Identifier: CA348841

Gene: APC

Linked Data

• ClinVar Variation Id: 221112
• ClinVar RCV Id: RCV000204628 ; RCV000572746
• dbSNP Id: rs864622751
• gnomAD v4: 5-112840834-T-C
• MyVariant Identifiers: chr5:g.112176531T>C (hg19) ; chr5:g.112840834T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840834T>C , CM000667.2:g.112840834T>C	GRCh38
NC_000005.9:g.112176531T>C , CM000667.1:g.112176531T>C	GRCh37
NC_000005.8:g.112204430T>C	NCBI36
NG_008481.4:g.153314T>C , LRG_130:g.153314T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5294T>C	ENSP00000473355.2:p.Met1765Thr
ENST00000505350.2:c.*5246T>C	ENSP00000481752.1:n.*5246T>C
ENST00000507379.6:c.5186T>C	ENSP00000423224.2:p.Met1729Thr
ENST00000509732.6:c.5240T>C	ENSP00000426541.2:p.Met1747Thr
ENST00000512211.7:c.5240T>C	ENSP00000423828.3:p.Met1747Thr
ENST00000257430.9:c.5240T>C MANE Select	ENSP00000257430.4:p.Met1747Thr
ENST00000257430.8:c.5240T>C	ENSP00000257430.4:p.Met1747Thr
ENST00000508376.6:c.5240T>C	ENSP00000427089.2:p.Met1747Thr
ENST00000508624.5:c.*4562T>C	ENSP00000424265.1:n.*4562T>C
ENST00000520401.1:c.230+11862T>C
NM_000038.5:c.5240T>C	NP_000029.2:p.Met1747Thr
NM_001127510.2:c.5240T>C	NP_001120982.1:p.Met1747Thr
NM_001127511.2:c.5186T>C	NP_001120983.2:p.Met1729Thr
NM_001354895.1:c.5240T>C	NP_001341824.1:p.Met1747Thr
NM_001354896.1:c.5294T>C	NP_001341825.1:p.Met1765Thr
NM_001354897.1:c.5270T>C	NP_001341826.1:p.Met1757Thr
NM_001354898.1:c.5165T>C	NP_001341827.1:p.Met1722Thr
NM_001354899.1:c.5156T>C	NP_001341828.1:p.Met1719Thr
NM_001354900.1:c.5117T>C	NP_001341829.1:p.Met1706Thr
NM_001354901.1:c.5063T>C	NP_001341830.1:p.Met1688Thr
NM_001354902.1:c.4967T>C	NP_001341831.1:p.Met1656Thr
NM_001354903.1:c.4937T>C	NP_001341832.1:p.Met1646Thr
NM_001354904.1:c.4862T>C	NP_001341833.1:p.Met1621Thr
NM_001354905.1:c.4760T>C	NP_001341834.1:p.Met1587Thr
NM_001354906.1:c.4391T>C	NP_001341835.1:p.Met1464Thr
NM_000038.6:c.5240T>C MANE Select	NP_000029.2:p.Met1747Thr
NM_001127510.3:c.5240T>C	NP_001120982.1:p.Met1747Thr
NM_001127511.3:c.5186T>C	NP_001120983.2:p.Met1729Thr
NM_001354895.2:c.5240T>C	NP_001341824.1:p.Met1747Thr
NM_001354896.2:c.5294T>C	NP_001341825.1:p.Met1765Thr
NM_001354897.2:c.5270T>C	NP_001341826.1:p.Met1757Thr
NM_001354898.2:c.5165T>C	NP_001341827.1:p.Met1722Thr
NM_001354899.2:c.5156T>C	NP_001341828.1:p.Met1719Thr
NM_001354900.2:c.5117T>C	NP_001341829.1:p.Met1706Thr
NM_001354901.2:c.5063T>C	NP_001341830.1:p.Met1688Thr
NM_001354902.2:c.4967T>C	NP_001341831.1:p.Met1656Thr
NM_001354903.2:c.4937T>C	NP_001341832.1:p.Met1646Thr
NM_001354904.2:c.4862T>C	NP_001341833.1:p.Met1621Thr
NM_001354905.2:c.4760T>C	NP_001341834.1:p.Met1587Thr
NM_001354906.2:c.4391T>C	NP_001341835.1:p.Met1464Thr