Canonical Allele Identifier: CA16025265

Gene: APC

Linked Data

• ClinVar Variation Id: 2101397
• ClinVar RCV Id: RCV003744896
• MyVariant Identifiers: chr5:g.112170707G>T (hg19) ; chr5:g.112835010G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835010G>T , CM000667.2:g.112835010G>T	GRCh38
NC_000005.9:g.112170707G>T , CM000667.1:g.112170707G>T	GRCh37
NC_000005.8:g.112198606G>T	NCBI36
NG_008481.4:g.147490G>T , LRG_130:g.147490G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1468G>T	ENSP00000484935.2:n.1468G>T
ENST00000504915.3:c.1857G>T	ENSP00000473355.2:p.Glu619Asp
ENST00000505350.2:c.*1809G>T	ENSP00000481752.1:n.*1809G>T
ENST00000507379.6:c.1749G>T	ENSP00000423224.2:p.Glu583Asp
ENST00000509732.6:c.1803G>T	ENSP00000426541.2:p.Glu601Asp
ENST00000512211.7:c.1803G>T	ENSP00000423828.3:p.Glu601Asp
ENST00000257430.9:c.1803G>T MANE Select	ENSP00000257430.4:p.Glu601Asp
ENST00000257430.8:c.1803G>T	ENSP00000257430.4:p.Glu601Asp
ENST00000502371.2:c.156G>T
ENST00000504915.2:c.492G>T	ENSP00000473355.1:p.Glu164Asp
ENST00000507379.5:c.1749G>T	ENSP00000423224.1:p.Glu583Asp
ENST00000508376.6:c.1803G>T	ENSP00000427089.2:p.Glu601Asp
ENST00000508624.5:c.*1125G>T	ENSP00000424265.1:n.*1125G>T
ENST00000512211.6:c.1803G>T	ENSP00000423828.2:p.Glu601Asp
ENST00000520401.1:c.230+6038G>T
NM_000038.5:c.1803G>T	NP_000029.2:p.Glu601Asp
NM_001127510.2:c.1803G>T	NP_001120982.1:p.Glu601Asp
NM_001127511.2:c.1749G>T	NP_001120983.2:p.Glu583Asp
NM_001354895.1:c.1803G>T	NP_001341824.1:p.Glu601Asp
NM_001354896.1:c.1857G>T	NP_001341825.1:p.Glu619Asp
NM_001354897.1:c.1833G>T	NP_001341826.1:p.Glu611Asp
NM_001354898.1:c.1728G>T	NP_001341827.1:p.Glu576Asp
NM_001354899.1:c.1719G>T	NP_001341828.1:p.Glu573Asp
NM_001354900.1:c.1680G>T	NP_001341829.1:p.Glu560Asp
NM_001354901.1:c.1626G>T	NP_001341830.1:p.Glu542Asp
NM_001354902.1:c.1530G>T	NP_001341831.1:p.Glu510Asp
NM_001354903.1:c.1500G>T	NP_001341832.1:p.Glu500Asp
NM_001354904.1:c.1425G>T	NP_001341833.1:p.Glu475Asp
NM_001354905.1:c.1323G>T	NP_001341834.1:p.Glu441Asp
NM_001354906.1:c.954G>T	NP_001341835.1:p.Glu318Asp
NM_000038.6:c.1803G>T MANE Select	NP_000029.2:p.Glu601Asp
NM_001127510.3:c.1803G>T	NP_001120982.1:p.Glu601Asp
NM_001127511.3:c.1749G>T	NP_001120983.2:p.Glu583Asp
NM_001354895.2:c.1803G>T	NP_001341824.1:p.Glu601Asp
NM_001354896.2:c.1857G>T	NP_001341825.1:p.Glu619Asp
NM_001354897.2:c.1833G>T	NP_001341826.1:p.Glu611Asp
NM_001354898.2:c.1728G>T	NP_001341827.1:p.Glu576Asp
NM_001354899.2:c.1719G>T	NP_001341828.1:p.Glu573Asp
NM_001354900.2:c.1680G>T	NP_001341829.1:p.Glu560Asp
NM_001354901.2:c.1626G>T	NP_001341830.1:p.Glu542Asp
NM_001354902.2:c.1530G>T	NP_001341831.1:p.Glu510Asp
NM_001354903.2:c.1500G>T	NP_001341832.1:p.Glu500Asp
NM_001354904.2:c.1425G>T	NP_001341833.1:p.Glu475Asp
NM_001354905.2:c.1323G>T	NP_001341834.1:p.Glu441Asp
NM_001354906.2:c.954G>T	NP_001341835.1:p.Glu318Asp