Canonical Allele Identifier: CA16032639

Gene: APC

Linked Data

• ClinVar Variation Id: 1717624
• ClinVar RCV Id: RCV003743868
• dbSNP Id: rs1462290554
• MyVariant Identifiers: chr5:g.112176464G>T (hg19) ; chr5:g.112840767G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840767G>T , CM000667.2:g.112840767G>T	GRCh38
NC_000005.9:g.112176464G>T , CM000667.1:g.112176464G>T	GRCh37
NC_000005.8:g.112204363G>T	NCBI36
NG_008481.4:g.153247G>T , LRG_130:g.153247G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5227G>T	ENSP00000473355.2:p.Ala1743Ser
ENST00000505350.2:c.*5179G>T	ENSP00000481752.1:n.*5179G>T
ENST00000507379.6:c.5119G>T	ENSP00000423224.2:p.Ala1707Ser
ENST00000509732.6:c.5173G>T	ENSP00000426541.2:p.Ala1725Ser
ENST00000512211.7:c.5173G>T	ENSP00000423828.3:p.Ala1725Ser
ENST00000257430.9:c.5173G>T MANE Select	ENSP00000257430.4:p.Ala1725Ser
ENST00000257430.8:c.5173G>T	ENSP00000257430.4:p.Ala1725Ser
ENST00000508376.6:c.5173G>T	ENSP00000427089.2:p.Ala1725Ser
ENST00000508624.5:c.*4495G>T	ENSP00000424265.1:n.*4495G>T
ENST00000520401.1:c.230+11795G>T
NM_000038.5:c.5173G>T	NP_000029.2:p.Ala1725Ser
NM_001127510.2:c.5173G>T	NP_001120982.1:p.Ala1725Ser
NM_001127511.2:c.5119G>T	NP_001120983.2:p.Ala1707Ser
NM_001354895.1:c.5173G>T	NP_001341824.1:p.Ala1725Ser
NM_001354896.1:c.5227G>T	NP_001341825.1:p.Ala1743Ser
NM_001354897.1:c.5203G>T	NP_001341826.1:p.Ala1735Ser
NM_001354898.1:c.5098G>T	NP_001341827.1:p.Ala1700Ser
NM_001354899.1:c.5089G>T	NP_001341828.1:p.Ala1697Ser
NM_001354900.1:c.5050G>T	NP_001341829.1:p.Ala1684Ser
NM_001354901.1:c.4996G>T	NP_001341830.1:p.Ala1666Ser
NM_001354902.1:c.4900G>T	NP_001341831.1:p.Ala1634Ser
NM_001354903.1:c.4870G>T	NP_001341832.1:p.Ala1624Ser
NM_001354904.1:c.4795G>T	NP_001341833.1:p.Ala1599Ser
NM_001354905.1:c.4693G>T	NP_001341834.1:p.Ala1565Ser
NM_001354906.1:c.4324G>T	NP_001341835.1:p.Ala1442Ser
NM_000038.6:c.5173G>T MANE Select	NP_000029.2:p.Ala1725Ser
NM_001127510.3:c.5173G>T	NP_001120982.1:p.Ala1725Ser
NM_001127511.3:c.5119G>T	NP_001120983.2:p.Ala1707Ser
NM_001354895.2:c.5173G>T	NP_001341824.1:p.Ala1725Ser
NM_001354896.2:c.5227G>T	NP_001341825.1:p.Ala1743Ser
NM_001354897.2:c.5203G>T	NP_001341826.1:p.Ala1735Ser
NM_001354898.2:c.5098G>T	NP_001341827.1:p.Ala1700Ser
NM_001354899.2:c.5089G>T	NP_001341828.1:p.Ala1697Ser
NM_001354900.2:c.5050G>T	NP_001341829.1:p.Ala1684Ser
NM_001354901.2:c.4996G>T	NP_001341830.1:p.Ala1666Ser
NM_001354902.2:c.4900G>T	NP_001341831.1:p.Ala1634Ser
NM_001354903.2:c.4870G>T	NP_001341832.1:p.Ala1624Ser
NM_001354904.2:c.4795G>T	NP_001341833.1:p.Ala1599Ser
NM_001354905.2:c.4693G>T	NP_001341834.1:p.Ala1565Ser
NM_001354906.2:c.4324G>T	NP_001341835.1:p.Ala1442Ser