Canonical Allele Identifier: CA16032795

Gene: APC

Linked Data

• ClinVar Variation Id: 825585
• ClinVar RCV Id: RCV001023795
• dbSNP Id: rs1580657776
• MyVariant Identifiers: chr5:g.112176534A>G (hg19) ; chr5:g.112840837A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840837A>G , CM000667.2:g.112840837A>G	GRCh38
NC_000005.9:g.112176534A>G , CM000667.1:g.112176534A>G	GRCh37
NC_000005.8:g.112204433A>G	NCBI36
NG_008481.4:g.153317A>G , LRG_130:g.153317A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5297A>G	ENSP00000473355.2:p.Asp1766Gly
ENST00000505350.2:c.*5249A>G	ENSP00000481752.1:n.*5249A>G
ENST00000507379.6:c.5189A>G	ENSP00000423224.2:p.Asp1730Gly
ENST00000509732.6:c.5243A>G	ENSP00000426541.2:p.Asp1748Gly
ENST00000512211.7:c.5243A>G	ENSP00000423828.3:p.Asp1748Gly
ENST00000257430.9:c.5243A>G MANE Select	ENSP00000257430.4:p.Asp1748Gly
ENST00000257430.8:c.5243A>G	ENSP00000257430.4:p.Asp1748Gly
ENST00000508376.6:c.5243A>G	ENSP00000427089.2:p.Asp1748Gly
ENST00000508624.5:c.*4565A>G	ENSP00000424265.1:n.*4565A>G
ENST00000520401.1:c.230+11865A>G
NM_000038.5:c.5243A>G	NP_000029.2:p.Asp1748Gly
NM_001127510.2:c.5243A>G	NP_001120982.1:p.Asp1748Gly
NM_001127511.2:c.5189A>G	NP_001120983.2:p.Asp1730Gly
NM_001354895.1:c.5243A>G	NP_001341824.1:p.Asp1748Gly
NM_001354896.1:c.5297A>G	NP_001341825.1:p.Asp1766Gly
NM_001354897.1:c.5273A>G	NP_001341826.1:p.Asp1758Gly
NM_001354898.1:c.5168A>G	NP_001341827.1:p.Asp1723Gly
NM_001354899.1:c.5159A>G	NP_001341828.1:p.Asp1720Gly
NM_001354900.1:c.5120A>G	NP_001341829.1:p.Asp1707Gly
NM_001354901.1:c.5066A>G	NP_001341830.1:p.Asp1689Gly
NM_001354902.1:c.4970A>G	NP_001341831.1:p.Asp1657Gly
NM_001354903.1:c.4940A>G	NP_001341832.1:p.Asp1647Gly
NM_001354904.1:c.4865A>G	NP_001341833.1:p.Asp1622Gly
NM_001354905.1:c.4763A>G	NP_001341834.1:p.Asp1588Gly
NM_001354906.1:c.4394A>G	NP_001341835.1:p.Asp1465Gly
NM_000038.6:c.5243A>G MANE Select	NP_000029.2:p.Asp1748Gly
NM_001127510.3:c.5243A>G	NP_001120982.1:p.Asp1748Gly
NM_001127511.3:c.5189A>G	NP_001120983.2:p.Asp1730Gly
NM_001354895.2:c.5243A>G	NP_001341824.1:p.Asp1748Gly
NM_001354896.2:c.5297A>G	NP_001341825.1:p.Asp1766Gly
NM_001354897.2:c.5273A>G	NP_001341826.1:p.Asp1758Gly
NM_001354898.2:c.5168A>G	NP_001341827.1:p.Asp1723Gly
NM_001354899.2:c.5159A>G	NP_001341828.1:p.Asp1720Gly
NM_001354900.2:c.5120A>G	NP_001341829.1:p.Asp1707Gly
NM_001354901.2:c.5066A>G	NP_001341830.1:p.Asp1689Gly
NM_001354902.2:c.4970A>G	NP_001341831.1:p.Asp1657Gly
NM_001354903.2:c.4940A>G	NP_001341832.1:p.Asp1647Gly
NM_001354904.2:c.4865A>G	NP_001341833.1:p.Asp1622Gly
NM_001354905.2:c.4763A>G	NP_001341834.1:p.Asp1588Gly
NM_001354906.2:c.4394A>G	NP_001341835.1:p.Asp1465Gly