Canonical Allele Identifier: CA16032560

Gene: APC

Linked Data

• dbSNP Id: rs2149932958
• gnomAD v4: 5-112840733-G-C
• MyVariant Identifiers: chr5:g.112176430G>C (hg19) ; chr5:g.112840733G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840733G>C , CM000667.2:g.112840733G>C	GRCh38
NC_000005.9:g.112176430G>C , CM000667.1:g.112176430G>C	GRCh37
NC_000005.8:g.112204329G>C	NCBI36
NG_008481.4:g.153213G>C , LRG_130:g.153213G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5193G>C	ENSP00000473355.2:p.Leu1731Phe
ENST00000505350.2:c.*5145G>C	ENSP00000481752.1:n.*5145G>C
ENST00000507379.6:c.5085G>C	ENSP00000423224.2:p.Leu1695Phe
ENST00000509732.6:c.5139G>C	ENSP00000426541.2:p.Leu1713Phe
ENST00000512211.7:c.5139G>C	ENSP00000423828.3:p.Leu1713Phe
ENST00000257430.9:c.5139G>C MANE Select	ENSP00000257430.4:p.Leu1713Phe
ENST00000257430.8:c.5139G>C	ENSP00000257430.4:p.Leu1713Phe
ENST00000508376.6:c.5139G>C	ENSP00000427089.2:p.Leu1713Phe
ENST00000508624.5:c.*4461G>C	ENSP00000424265.1:n.*4461G>C
ENST00000520401.1:c.230+11761G>C
NM_000038.5:c.5139G>C	NP_000029.2:p.Leu1713Phe
NM_001127510.2:c.5139G>C	NP_001120982.1:p.Leu1713Phe
NM_001127511.2:c.5085G>C	NP_001120983.2:p.Leu1695Phe
NM_001354895.1:c.5139G>C	NP_001341824.1:p.Leu1713Phe
NM_001354896.1:c.5193G>C	NP_001341825.1:p.Leu1731Phe
NM_001354897.1:c.5169G>C	NP_001341826.1:p.Leu1723Phe
NM_001354898.1:c.5064G>C	NP_001341827.1:p.Leu1688Phe
NM_001354899.1:c.5055G>C	NP_001341828.1:p.Leu1685Phe
NM_001354900.1:c.5016G>C	NP_001341829.1:p.Leu1672Phe
NM_001354901.1:c.4962G>C	NP_001341830.1:p.Leu1654Phe
NM_001354902.1:c.4866G>C	NP_001341831.1:p.Leu1622Phe
NM_001354903.1:c.4836G>C	NP_001341832.1:p.Leu1612Phe
NM_001354904.1:c.4761G>C	NP_001341833.1:p.Leu1587Phe
NM_001354905.1:c.4659G>C	NP_001341834.1:p.Leu1553Phe
NM_001354906.1:c.4290G>C	NP_001341835.1:p.Leu1430Phe
NM_000038.6:c.5139G>C MANE Select	NP_000029.2:p.Leu1713Phe
NM_001127510.3:c.5139G>C	NP_001120982.1:p.Leu1713Phe
NM_001127511.3:c.5085G>C	NP_001120983.2:p.Leu1695Phe
NM_001354895.2:c.5139G>C	NP_001341824.1:p.Leu1713Phe
NM_001354896.2:c.5193G>C	NP_001341825.1:p.Leu1731Phe
NM_001354897.2:c.5169G>C	NP_001341826.1:p.Leu1723Phe
NM_001354898.2:c.5064G>C	NP_001341827.1:p.Leu1688Phe
NM_001354899.2:c.5055G>C	NP_001341828.1:p.Leu1685Phe
NM_001354900.2:c.5016G>C	NP_001341829.1:p.Leu1672Phe
NM_001354901.2:c.4962G>C	NP_001341830.1:p.Leu1654Phe
NM_001354902.2:c.4866G>C	NP_001341831.1:p.Leu1622Phe
NM_001354903.2:c.4836G>C	NP_001341832.1:p.Leu1612Phe
NM_001354904.2:c.4761G>C	NP_001341833.1:p.Leu1587Phe
NM_001354905.2:c.4659G>C	NP_001341834.1:p.Leu1553Phe
NM_001354906.2:c.4290G>C	NP_001341835.1:p.Leu1430Phe