Canonical Allele Identifier: CA046559

Gene: APC

Linked Data

• dbSNP Id: rs746401478
• ExAC: 5:112178259 C / T
• gnomAD v2: 5-112178259-C-T
• gnomAD v3: 5-112842562-C-T
• gnomAD v4: 5-112842562-C-T
• MyVariant Identifiers: chr5:g.112178259C>T (hg19) ; chr5:g.112842562C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842562C>T , CM000667.2:g.112842562C>T	GRCh38
NC_000005.9:g.112178259C>T , CM000667.1:g.112178259C>T	GRCh37
NC_000005.8:g.112206158C>T	NCBI36
NG_008481.4:g.155042C>T , LRG_130:g.155042C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7022C>T	ENSP00000473355.2:p.Ser2341Phe
ENST00000505350.2:c.*6974C>T	ENSP00000481752.1:n.*6974C>T
ENST00000507379.6:c.6914C>T	ENSP00000423224.2:p.Ser2305Phe
ENST00000509732.6:c.6968C>T	ENSP00000426541.2:p.Ser2323Phe
ENST00000512211.7:c.6968C>T	ENSP00000423828.3:p.Ser2323Phe
ENST00000257430.9:c.6968C>T MANE Select	ENSP00000257430.4:p.Ser2323Phe
ENST00000257430.8:c.6968C>T	ENSP00000257430.4:p.Ser2323Phe
ENST00000508376.6:c.6968C>T	ENSP00000427089.2:p.Ser2323Phe
ENST00000508624.5:c.*6290C>T	ENSP00000424265.1:n.*6290C>T
ENST00000520401.1:c.230+13590C>T
NM_000038.5:c.6968C>T	NP_000029.2:p.Ser2323Phe
NM_001127510.2:c.6968C>T	NP_001120982.1:p.Ser2323Phe
NM_001127511.2:c.6914C>T	NP_001120983.2:p.Ser2305Phe
NM_001354895.1:c.6968C>T	NP_001341824.1:p.Ser2323Phe
NM_001354896.1:c.7022C>T	NP_001341825.1:p.Ser2341Phe
NM_001354897.1:c.6998C>T	NP_001341826.1:p.Ser2333Phe
NM_001354898.1:c.6893C>T	NP_001341827.1:p.Ser2298Phe
NM_001354899.1:c.6884C>T	NP_001341828.1:p.Ser2295Phe
NM_001354900.1:c.6845C>T	NP_001341829.1:p.Ser2282Phe
NM_001354901.1:c.6791C>T	NP_001341830.1:p.Ser2264Phe
NM_001354902.1:c.6695C>T	NP_001341831.1:p.Ser2232Phe
NM_001354903.1:c.6665C>T	NP_001341832.1:p.Ser2222Phe
NM_001354904.1:c.6590C>T	NP_001341833.1:p.Ser2197Phe
NM_001354905.1:c.6488C>T	NP_001341834.1:p.Ser2163Phe
NM_001354906.1:c.6119C>T	NP_001341835.1:p.Ser2040Phe
NM_000038.6:c.6968C>T MANE Select	NP_000029.2:p.Ser2323Phe
NM_001127510.3:c.6968C>T	NP_001120982.1:p.Ser2323Phe
NM_001127511.3:c.6914C>T	NP_001120983.2:p.Ser2305Phe
NM_001354895.2:c.6968C>T	NP_001341824.1:p.Ser2323Phe
NM_001354896.2:c.7022C>T	NP_001341825.1:p.Ser2341Phe
NM_001354897.2:c.6998C>T	NP_001341826.1:p.Ser2333Phe
NM_001354898.2:c.6893C>T	NP_001341827.1:p.Ser2298Phe
NM_001354899.2:c.6884C>T	NP_001341828.1:p.Ser2295Phe
NM_001354900.2:c.6845C>T	NP_001341829.1:p.Ser2282Phe
NM_001354901.2:c.6791C>T	NP_001341830.1:p.Ser2264Phe
NM_001354902.2:c.6695C>T	NP_001341831.1:p.Ser2232Phe
NM_001354903.2:c.6665C>T	NP_001341832.1:p.Ser2222Phe
NM_001354904.2:c.6590C>T	NP_001341833.1:p.Ser2197Phe
NM_001354905.2:c.6488C>T	NP_001341834.1:p.Ser2163Phe
NM_001354906.2:c.6119C>T	NP_001341835.1:p.Ser2040Phe