Canonical Allele Identifier: CA16032793

Gene: APC

Linked Data

• ClinVar Variation Id: 1392373
• ClinVar RCV Id: RCV003772699
• dbSNP Id: rs2149935550
• MyVariant Identifiers: chr5:g.112176533G>T (hg19) ; chr5:g.112840836G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840836G>T , CM000667.2:g.112840836G>T	GRCh38
NC_000005.9:g.112176533G>T , CM000667.1:g.112176533G>T	GRCh37
NC_000005.8:g.112204432G>T	NCBI36
NG_008481.4:g.153316G>T , LRG_130:g.153316G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5296G>T	ENSP00000473355.2:p.Asp1766Tyr
ENST00000505350.2:c.*5248G>T	ENSP00000481752.1:n.*5248G>T
ENST00000507379.6:c.5188G>T	ENSP00000423224.2:p.Asp1730Tyr
ENST00000509732.6:c.5242G>T	ENSP00000426541.2:p.Asp1748Tyr
ENST00000512211.7:c.5242G>T	ENSP00000423828.3:p.Asp1748Tyr
ENST00000257430.9:c.5242G>T MANE Select	ENSP00000257430.4:p.Asp1748Tyr
ENST00000257430.8:c.5242G>T	ENSP00000257430.4:p.Asp1748Tyr
ENST00000508376.6:c.5242G>T	ENSP00000427089.2:p.Asp1748Tyr
ENST00000508624.5:c.*4564G>T	ENSP00000424265.1:n.*4564G>T
ENST00000520401.1:c.230+11864G>T
NM_000038.5:c.5242G>T	NP_000029.2:p.Asp1748Tyr
NM_001127510.2:c.5242G>T	NP_001120982.1:p.Asp1748Tyr
NM_001127511.2:c.5188G>T	NP_001120983.2:p.Asp1730Tyr
NM_001354895.1:c.5242G>T	NP_001341824.1:p.Asp1748Tyr
NM_001354896.1:c.5296G>T	NP_001341825.1:p.Asp1766Tyr
NM_001354897.1:c.5272G>T	NP_001341826.1:p.Asp1758Tyr
NM_001354898.1:c.5167G>T	NP_001341827.1:p.Asp1723Tyr
NM_001354899.1:c.5158G>T	NP_001341828.1:p.Asp1720Tyr
NM_001354900.1:c.5119G>T	NP_001341829.1:p.Asp1707Tyr
NM_001354901.1:c.5065G>T	NP_001341830.1:p.Asp1689Tyr
NM_001354902.1:c.4969G>T	NP_001341831.1:p.Asp1657Tyr
NM_001354903.1:c.4939G>T	NP_001341832.1:p.Asp1647Tyr
NM_001354904.1:c.4864G>T	NP_001341833.1:p.Asp1622Tyr
NM_001354905.1:c.4762G>T	NP_001341834.1:p.Asp1588Tyr
NM_001354906.1:c.4393G>T	NP_001341835.1:p.Asp1465Tyr
NM_000038.6:c.5242G>T MANE Select	NP_000029.2:p.Asp1748Tyr
NM_001127510.3:c.5242G>T	NP_001120982.1:p.Asp1748Tyr
NM_001127511.3:c.5188G>T	NP_001120983.2:p.Asp1730Tyr
NM_001354895.2:c.5242G>T	NP_001341824.1:p.Asp1748Tyr
NM_001354896.2:c.5296G>T	NP_001341825.1:p.Asp1766Tyr
NM_001354897.2:c.5272G>T	NP_001341826.1:p.Asp1758Tyr
NM_001354898.2:c.5167G>T	NP_001341827.1:p.Asp1723Tyr
NM_001354899.2:c.5158G>T	NP_001341828.1:p.Asp1720Tyr
NM_001354900.2:c.5119G>T	NP_001341829.1:p.Asp1707Tyr
NM_001354901.2:c.5065G>T	NP_001341830.1:p.Asp1689Tyr
NM_001354902.2:c.4969G>T	NP_001341831.1:p.Asp1657Tyr
NM_001354903.2:c.4939G>T	NP_001341832.1:p.Asp1647Tyr
NM_001354904.2:c.4864G>T	NP_001341833.1:p.Asp1622Tyr
NM_001354905.2:c.4762G>T	NP_001341834.1:p.Asp1588Tyr
NM_001354906.2:c.4393G>T	NP_001341835.1:p.Asp1465Tyr