Canonical Allele Identifier: CA16025307

Gene: APC

Linked Data

• dbSNP Id: rs1764709046
• gnomAD v4: 5-112835028-T-A
• MyVariant Identifiers: chr5:g.112170725T>A (hg19) ; chr5:g.112835028T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835028T>A , CM000667.2:g.112835028T>A	GRCh38
NC_000005.9:g.112170725T>A , CM000667.1:g.112170725T>A	GRCh37
NC_000005.8:g.112198624T>A	NCBI36
NG_008481.4:g.147508T>A , LRG_130:g.147508T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1486T>A	ENSP00000484935.2:n.1486T>A
ENST00000504915.3:c.1875T>A	ENSP00000473355.2:p.Cys625Ter
ENST00000505350.2:c.*1827T>A	ENSP00000481752.1:n.*1827T>A
ENST00000507379.6:c.1767T>A	ENSP00000423224.2:p.Cys589Ter
ENST00000509732.6:c.1821T>A	ENSP00000426541.2:p.Cys607Ter
ENST00000512211.7:c.1821T>A	ENSP00000423828.3:p.Cys607Ter
ENST00000257430.9:c.1821T>A MANE Select	ENSP00000257430.4:p.Cys607Ter
ENST00000257430.8:c.1821T>A	ENSP00000257430.4:p.Cys607Ter
ENST00000502371.2:c.174T>A
ENST00000504915.2:c.510T>A	ENSP00000473355.1:p.Cys170Ter
ENST00000507379.5:c.1767T>A	ENSP00000423224.1:p.Cys589Ter
ENST00000508376.6:c.1821T>A	ENSP00000427089.2:p.Cys607Ter
ENST00000508624.5:c.*1143T>A	ENSP00000424265.1:n.*1143T>A
ENST00000512211.6:c.1821T>A	ENSP00000423828.2:p.Cys607Ter
ENST00000520401.1:c.230+6056T>A
NM_000038.5:c.1821T>A	NP_000029.2:p.Cys607Ter
NM_001127510.2:c.1821T>A	NP_001120982.1:p.Cys607Ter
NM_001127511.2:c.1767T>A	NP_001120983.2:p.Cys589Ter
NM_001354895.1:c.1821T>A	NP_001341824.1:p.Cys607Ter
NM_001354896.1:c.1875T>A	NP_001341825.1:p.Cys625Ter
NM_001354897.1:c.1851T>A	NP_001341826.1:p.Cys617Ter
NM_001354898.1:c.1746T>A	NP_001341827.1:p.Cys582Ter
NM_001354899.1:c.1737T>A	NP_001341828.1:p.Cys579Ter
NM_001354900.1:c.1698T>A	NP_001341829.1:p.Cys566Ter
NM_001354901.1:c.1644T>A	NP_001341830.1:p.Cys548Ter
NM_001354902.1:c.1548T>A	NP_001341831.1:p.Cys516Ter
NM_001354903.1:c.1518T>A	NP_001341832.1:p.Cys506Ter
NM_001354904.1:c.1443T>A	NP_001341833.1:p.Cys481Ter
NM_001354905.1:c.1341T>A	NP_001341834.1:p.Cys447Ter
NM_001354906.1:c.972T>A	NP_001341835.1:p.Cys324Ter
NM_000038.6:c.1821T>A MANE Select	NP_000029.2:p.Cys607Ter
NM_001127510.3:c.1821T>A	NP_001120982.1:p.Cys607Ter
NM_001127511.3:c.1767T>A	NP_001120983.2:p.Cys589Ter
NM_001354895.2:c.1821T>A	NP_001341824.1:p.Cys607Ter
NM_001354896.2:c.1875T>A	NP_001341825.1:p.Cys625Ter
NM_001354897.2:c.1851T>A	NP_001341826.1:p.Cys617Ter
NM_001354898.2:c.1746T>A	NP_001341827.1:p.Cys582Ter
NM_001354899.2:c.1737T>A	NP_001341828.1:p.Cys579Ter
NM_001354900.2:c.1698T>A	NP_001341829.1:p.Cys566Ter
NM_001354901.2:c.1644T>A	NP_001341830.1:p.Cys548Ter
NM_001354902.2:c.1548T>A	NP_001341831.1:p.Cys516Ter
NM_001354903.2:c.1518T>A	NP_001341832.1:p.Cys506Ter
NM_001354904.2:c.1443T>A	NP_001341833.1:p.Cys481Ter
NM_001354905.2:c.1341T>A	NP_001341834.1:p.Cys447Ter
NM_001354906.2:c.972T>A	NP_001341835.1:p.Cys324Ter