Canonical Allele Identifier: CA16033127

Gene: APC

Linked Data

• ClinVar Variation Id: 2824923
• ClinVar RCV Id: RCV003744228
• MyVariant Identifiers: chr5:g.112176687T>G (hg19) ; chr5:g.112840990T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840990T>G , CM000667.2:g.112840990T>G	GRCh38
NC_000005.9:g.112176687T>G , CM000667.1:g.112176687T>G	GRCh37
NC_000005.8:g.112204586T>G	NCBI36
NG_008481.4:g.153470T>G , LRG_130:g.153470T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5450T>G	ENSP00000473355.2:p.Leu1817Ter
ENST00000505350.2:c.*5402T>G	ENSP00000481752.1:n.*5402T>G
ENST00000507379.6:c.5342T>G	ENSP00000423224.2:p.Leu1781Ter
ENST00000509732.6:c.5396T>G	ENSP00000426541.2:p.Leu1799Ter
ENST00000512211.7:c.5396T>G	ENSP00000423828.3:p.Leu1799Ter
ENST00000257430.9:c.5396T>G MANE Select	ENSP00000257430.4:p.Leu1799Ter
ENST00000257430.8:c.5396T>G	ENSP00000257430.4:p.Leu1799Ter
ENST00000508376.6:c.5396T>G	ENSP00000427089.2:p.Leu1799Ter
ENST00000508624.5:c.*4718T>G	ENSP00000424265.1:n.*4718T>G
ENST00000520401.1:c.230+12018T>G
NM_000038.5:c.5396T>G	NP_000029.2:p.Leu1799Ter
NM_001127510.2:c.5396T>G	NP_001120982.1:p.Leu1799Ter
NM_001127511.2:c.5342T>G	NP_001120983.2:p.Leu1781Ter
NM_001354895.1:c.5396T>G	NP_001341824.1:p.Leu1799Ter
NM_001354896.1:c.5450T>G	NP_001341825.1:p.Leu1817Ter
NM_001354897.1:c.5426T>G	NP_001341826.1:p.Leu1809Ter
NM_001354898.1:c.5321T>G	NP_001341827.1:p.Leu1774Ter
NM_001354899.1:c.5312T>G	NP_001341828.1:p.Leu1771Ter
NM_001354900.1:c.5273T>G	NP_001341829.1:p.Leu1758Ter
NM_001354901.1:c.5219T>G	NP_001341830.1:p.Leu1740Ter
NM_001354902.1:c.5123T>G	NP_001341831.1:p.Leu1708Ter
NM_001354903.1:c.5093T>G	NP_001341832.1:p.Leu1698Ter
NM_001354904.1:c.5018T>G	NP_001341833.1:p.Leu1673Ter
NM_001354905.1:c.4916T>G	NP_001341834.1:p.Leu1639Ter
NM_001354906.1:c.4547T>G	NP_001341835.1:p.Leu1516Ter
NM_000038.6:c.5396T>G MANE Select	NP_000029.2:p.Leu1799Ter
NM_001127510.3:c.5396T>G	NP_001120982.1:p.Leu1799Ter
NM_001127511.3:c.5342T>G	NP_001120983.2:p.Leu1781Ter
NM_001354895.2:c.5396T>G	NP_001341824.1:p.Leu1799Ter
NM_001354896.2:c.5450T>G	NP_001341825.1:p.Leu1817Ter
NM_001354897.2:c.5426T>G	NP_001341826.1:p.Leu1809Ter
NM_001354898.2:c.5321T>G	NP_001341827.1:p.Leu1774Ter
NM_001354899.2:c.5312T>G	NP_001341828.1:p.Leu1771Ter
NM_001354900.2:c.5273T>G	NP_001341829.1:p.Leu1758Ter
NM_001354901.2:c.5219T>G	NP_001341830.1:p.Leu1740Ter
NM_001354902.2:c.5123T>G	NP_001341831.1:p.Leu1708Ter
NM_001354903.2:c.5093T>G	NP_001341832.1:p.Leu1698Ter
NM_001354904.2:c.5018T>G	NP_001341833.1:p.Leu1673Ter
NM_001354905.2:c.4916T>G	NP_001341834.1:p.Leu1639Ter
NM_001354906.2:c.4547T>G	NP_001341835.1:p.Leu1516Ter