Canonical Allele Identifier: CA16026187

Gene: APC

Linked Data

• dbSNP Id: rs2149863486
• MyVariant Identifiers: chr5:g.112173506G>T (hg19) ; chr5:g.112837809G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837809G>T , CM000667.2:g.112837809G>T	GRCh38
NC_000005.9:g.112173506G>T , CM000667.1:g.112173506G>T	GRCh37
NC_000005.8:g.112201405G>T	NCBI36
NG_008481.4:g.150289G>T , LRG_130:g.150289G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1880G>T	ENSP00000484935.2:n.1880G>T
ENST00000504915.3:c.2269G>T	ENSP00000473355.2:p.Asp757Tyr
ENST00000505350.2:c.*2221G>T	ENSP00000481752.1:n.*2221G>T
ENST00000507379.6:c.2161G>T	ENSP00000423224.2:p.Asp721Tyr
ENST00000509732.6:c.2215G>T	ENSP00000426541.2:p.Asp739Tyr
ENST00000512211.7:c.2215G>T	ENSP00000423828.3:p.Asp739Tyr
ENST00000257430.9:c.2215G>T MANE Select	ENSP00000257430.4:p.Asp739Tyr
ENST00000257430.8:c.2215G>T	ENSP00000257430.4:p.Asp739Tyr
ENST00000502371.2:c.568G>T
ENST00000507379.5:c.2161G>T	ENSP00000423224.1:p.Asp721Tyr
ENST00000508376.6:c.2215G>T	ENSP00000427089.2:p.Asp739Tyr
ENST00000508624.5:c.*1537G>T	ENSP00000424265.1:n.*1537G>T
ENST00000512211.6:c.2215G>T	ENSP00000423828.2:p.Asp739Tyr
ENST00000520401.1:c.230+8837G>T
NM_000038.5:c.2215G>T	NP_000029.2:p.Asp739Tyr
NM_001127510.2:c.2215G>T	NP_001120982.1:p.Asp739Tyr
NM_001127511.2:c.2161G>T	NP_001120983.2:p.Asp721Tyr
NM_001354895.1:c.2215G>T	NP_001341824.1:p.Asp739Tyr
NM_001354896.1:c.2269G>T	NP_001341825.1:p.Asp757Tyr
NM_001354897.1:c.2245G>T	NP_001341826.1:p.Asp749Tyr
NM_001354898.1:c.2140G>T	NP_001341827.1:p.Asp714Tyr
NM_001354899.1:c.2131G>T	NP_001341828.1:p.Asp711Tyr
NM_001354900.1:c.2092G>T	NP_001341829.1:p.Asp698Tyr
NM_001354901.1:c.2038G>T	NP_001341830.1:p.Asp680Tyr
NM_001354902.1:c.1942G>T	NP_001341831.1:p.Asp648Tyr
NM_001354903.1:c.1912G>T	NP_001341832.1:p.Asp638Tyr
NM_001354904.1:c.1837G>T	NP_001341833.1:p.Asp613Tyr
NM_001354905.1:c.1735G>T	NP_001341834.1:p.Asp579Tyr
NM_001354906.1:c.1366G>T	NP_001341835.1:p.Asp456Tyr
NM_000038.6:c.2215G>T MANE Select	NP_000029.2:p.Asp739Tyr
NM_001127510.3:c.2215G>T	NP_001120982.1:p.Asp739Tyr
NM_001127511.3:c.2161G>T	NP_001120983.2:p.Asp721Tyr
NM_001354895.2:c.2215G>T	NP_001341824.1:p.Asp739Tyr
NM_001354896.2:c.2269G>T	NP_001341825.1:p.Asp757Tyr
NM_001354897.2:c.2245G>T	NP_001341826.1:p.Asp749Tyr
NM_001354898.2:c.2140G>T	NP_001341827.1:p.Asp714Tyr
NM_001354899.2:c.2131G>T	NP_001341828.1:p.Asp711Tyr
NM_001354900.2:c.2092G>T	NP_001341829.1:p.Asp698Tyr
NM_001354901.2:c.2038G>T	NP_001341830.1:p.Asp680Tyr
NM_001354902.2:c.1942G>T	NP_001341831.1:p.Asp648Tyr
NM_001354903.2:c.1912G>T	NP_001341832.1:p.Asp638Tyr
NM_001354904.2:c.1837G>T	NP_001341833.1:p.Asp613Tyr
NM_001354905.2:c.1735G>T	NP_001341834.1:p.Asp579Tyr
NM_001354906.2:c.1366G>T	NP_001341835.1:p.Asp456Tyr