Canonical Allele Identifier: CA16028106

Gene: APC

Linked Data

• dbSNP Id: rs2149884132
• MyVariant Identifiers: chr5:g.112174383A>T (hg19) ; chr5:g.112838686A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838686A>T , CM000667.2:g.112838686A>T	GRCh38
NC_000005.9:g.112174383A>T , CM000667.1:g.112174383A>T	GRCh37
NC_000005.8:g.112202282A>T	NCBI36
NG_008481.4:g.151166A>T , LRG_130:g.151166A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2757A>T	ENSP00000484935.2:n.2757A>T
ENST00000504915.3:c.3146A>T	ENSP00000473355.2:p.Tyr1049Phe
ENST00000505350.2:c.*3098A>T	ENSP00000481752.1:n.*3098A>T
ENST00000507379.6:c.3038A>T	ENSP00000423224.2:p.Tyr1013Phe
ENST00000509732.6:c.3092A>T	ENSP00000426541.2:p.Tyr1031Phe
ENST00000512211.7:c.3092A>T	ENSP00000423828.3:p.Tyr1031Phe
ENST00000257430.9:c.3092A>T MANE Select	ENSP00000257430.4:p.Tyr1031Phe
ENST00000257430.8:c.3092A>T	ENSP00000257430.4:p.Tyr1031Phe
ENST00000502371.2:c.1445A>T
ENST00000507379.5:c.3038A>T	ENSP00000423224.1:p.Tyr1013Phe
ENST00000508376.6:c.3092A>T	ENSP00000427089.2:p.Tyr1031Phe
ENST00000508624.5:c.*2414A>T	ENSP00000424265.1:n.*2414A>T
ENST00000512211.6:c.3092A>T	ENSP00000423828.2:p.Tyr1031Phe
ENST00000520401.1:c.230+9714A>T
NM_000038.5:c.3092A>T	NP_000029.2:p.Tyr1031Phe
NM_001127510.2:c.3092A>T	NP_001120982.1:p.Tyr1031Phe
NM_001127511.2:c.3038A>T	NP_001120983.2:p.Tyr1013Phe
NM_001354895.1:c.3092A>T	NP_001341824.1:p.Tyr1031Phe
NM_001354896.1:c.3146A>T	NP_001341825.1:p.Tyr1049Phe
NM_001354897.1:c.3122A>T	NP_001341826.1:p.Tyr1041Phe
NM_001354898.1:c.3017A>T	NP_001341827.1:p.Tyr1006Phe
NM_001354899.1:c.3008A>T	NP_001341828.1:p.Tyr1003Phe
NM_001354900.1:c.2969A>T	NP_001341829.1:p.Tyr990Phe
NM_001354901.1:c.2915A>T	NP_001341830.1:p.Tyr972Phe
NM_001354902.1:c.2819A>T	NP_001341831.1:p.Tyr940Phe
NM_001354903.1:c.2789A>T	NP_001341832.1:p.Tyr930Phe
NM_001354904.1:c.2714A>T	NP_001341833.1:p.Tyr905Phe
NM_001354905.1:c.2612A>T	NP_001341834.1:p.Tyr871Phe
NM_001354906.1:c.2243A>T	NP_001341835.1:p.Tyr748Phe
NM_000038.6:c.3092A>T MANE Select	NP_000029.2:p.Tyr1031Phe
NM_001127510.3:c.3092A>T	NP_001120982.1:p.Tyr1031Phe
NM_001127511.3:c.3038A>T	NP_001120983.2:p.Tyr1013Phe
NM_001354895.2:c.3092A>T	NP_001341824.1:p.Tyr1031Phe
NM_001354896.2:c.3146A>T	NP_001341825.1:p.Tyr1049Phe
NM_001354897.2:c.3122A>T	NP_001341826.1:p.Tyr1041Phe
NM_001354898.2:c.3017A>T	NP_001341827.1:p.Tyr1006Phe
NM_001354899.2:c.3008A>T	NP_001341828.1:p.Tyr1003Phe
NM_001354900.2:c.2969A>T	NP_001341829.1:p.Tyr990Phe
NM_001354901.2:c.2915A>T	NP_001341830.1:p.Tyr972Phe
NM_001354902.2:c.2819A>T	NP_001341831.1:p.Tyr940Phe
NM_001354903.2:c.2789A>T	NP_001341832.1:p.Tyr930Phe
NM_001354904.2:c.2714A>T	NP_001341833.1:p.Tyr905Phe
NM_001354905.2:c.2612A>T	NP_001341834.1:p.Tyr871Phe
NM_001354906.2:c.2243A>T	NP_001341835.1:p.Tyr748Phe