Canonical Allele Identifier: CA16028720

Gene: APC

Linked Data

• ClinVar Variation Id: 469920
• ClinVar RCV Id: RCV003742679 ; RCV003338658
• dbSNP Id: rs1554084970
• MyVariant Identifiers: chr5:g.112174662A>G (hg19) ; chr5:g.112838965A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838965A>G , CM000667.2:g.112838965A>G	GRCh38
NC_000005.9:g.112174662A>G , CM000667.1:g.112174662A>G	GRCh37
NC_000005.8:g.112202561A>G	NCBI36
NG_008481.4:g.151445A>G , LRG_130:g.151445A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3036A>G	ENSP00000484935.2:n.3036A>G
ENST00000504915.3:c.3425A>G	ENSP00000473355.2:p.Asn1142Ser
ENST00000505350.2:c.*3377A>G	ENSP00000481752.1:n.*3377A>G
ENST00000507379.6:c.3317A>G	ENSP00000423224.2:p.Asn1106Ser
ENST00000509732.6:c.3371A>G	ENSP00000426541.2:p.Asn1124Ser
ENST00000512211.7:c.3371A>G	ENSP00000423828.3:p.Asn1124Ser
ENST00000257430.9:c.3371A>G MANE Select	ENSP00000257430.4:p.Asn1124Ser
ENST00000257430.8:c.3371A>G	ENSP00000257430.4:p.Asn1124Ser
ENST00000502371.2:c.1724A>G
ENST00000507379.5:c.3317A>G	ENSP00000423224.1:p.Asn1106Ser
ENST00000508376.6:c.3371A>G	ENSP00000427089.2:p.Asn1124Ser
ENST00000508624.5:c.*2693A>G	ENSP00000424265.1:n.*2693A>G
ENST00000512211.6:c.3371A>G	ENSP00000423828.2:p.Asn1124Ser
ENST00000520401.1:c.230+9993A>G
NM_000038.5:c.3371A>G	NP_000029.2:p.Asn1124Ser
NM_001127510.2:c.3371A>G	NP_001120982.1:p.Asn1124Ser
NM_001127511.2:c.3317A>G	NP_001120983.2:p.Asn1106Ser
NM_001354895.1:c.3371A>G	NP_001341824.1:p.Asn1124Ser
NM_001354896.1:c.3425A>G	NP_001341825.1:p.Asn1142Ser
NM_001354897.1:c.3401A>G	NP_001341826.1:p.Asn1134Ser
NM_001354898.1:c.3296A>G	NP_001341827.1:p.Asn1099Ser
NM_001354899.1:c.3287A>G	NP_001341828.1:p.Asn1096Ser
NM_001354900.1:c.3248A>G	NP_001341829.1:p.Asn1083Ser
NM_001354901.1:c.3194A>G	NP_001341830.1:p.Asn1065Ser
NM_001354902.1:c.3098A>G	NP_001341831.1:p.Asn1033Ser
NM_001354903.1:c.3068A>G	NP_001341832.1:p.Asn1023Ser
NM_001354904.1:c.2993A>G	NP_001341833.1:p.Asn998Ser
NM_001354905.1:c.2891A>G	NP_001341834.1:p.Asn964Ser
NM_001354906.1:c.2522A>G	NP_001341835.1:p.Asn841Ser
NM_000038.6:c.3371A>G MANE Select	NP_000029.2:p.Asn1124Ser
NM_001127510.3:c.3371A>G	NP_001120982.1:p.Asn1124Ser
NM_001127511.3:c.3317A>G	NP_001120983.2:p.Asn1106Ser
NM_001354895.2:c.3371A>G	NP_001341824.1:p.Asn1124Ser
NM_001354896.2:c.3425A>G	NP_001341825.1:p.Asn1142Ser
NM_001354897.2:c.3401A>G	NP_001341826.1:p.Asn1134Ser
NM_001354898.2:c.3296A>G	NP_001341827.1:p.Asn1099Ser
NM_001354899.2:c.3287A>G	NP_001341828.1:p.Asn1096Ser
NM_001354900.2:c.3248A>G	NP_001341829.1:p.Asn1083Ser
NM_001354901.2:c.3194A>G	NP_001341830.1:p.Asn1065Ser
NM_001354902.2:c.3098A>G	NP_001341831.1:p.Asn1033Ser
NM_001354903.2:c.3068A>G	NP_001341832.1:p.Asn1023Ser
NM_001354904.2:c.2993A>G	NP_001341833.1:p.Asn998Ser
NM_001354905.2:c.2891A>G	NP_001341834.1:p.Asn964Ser
NM_001354906.2:c.2522A>G	NP_001341835.1:p.Asn841Ser