Canonical Allele Identifier: CA16028677

Gene: APC

Linked Data

• ClinVar Variation Id: 537440
• ClinVar RCV Id: RCV002325272 ; RCV002533277
• dbSNP Id: rs752011683
• MyVariant Identifiers: chr5:g.112174644A>G (hg19) ; chr5:g.112838947A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838947A>G , CM000667.2:g.112838947A>G	GRCh38
NC_000005.9:g.112174644A>G , CM000667.1:g.112174644A>G	GRCh37
NC_000005.8:g.112202543A>G	NCBI36
NG_008481.4:g.151427A>G , LRG_130:g.151427A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3018A>G	ENSP00000484935.2:n.3018A>G
ENST00000504915.3:c.3407A>G	ENSP00000473355.2:p.Asn1136Ser
ENST00000505350.2:c.*3359A>G	ENSP00000481752.1:n.*3359A>G
ENST00000507379.6:c.3299A>G	ENSP00000423224.2:p.Asn1100Ser
ENST00000509732.6:c.3353A>G	ENSP00000426541.2:p.Asn1118Ser
ENST00000512211.7:c.3353A>G	ENSP00000423828.3:p.Asn1118Ser
ENST00000257430.9:c.3353A>G MANE Select	ENSP00000257430.4:p.Asn1118Ser
ENST00000257430.8:c.3353A>G	ENSP00000257430.4:p.Asn1118Ser
ENST00000502371.2:c.1706A>G
ENST00000507379.5:c.3299A>G	ENSP00000423224.1:p.Asn1100Ser
ENST00000508376.6:c.3353A>G	ENSP00000427089.2:p.Asn1118Ser
ENST00000508624.5:c.*2675A>G	ENSP00000424265.1:n.*2675A>G
ENST00000512211.6:c.3353A>G	ENSP00000423828.2:p.Asn1118Ser
ENST00000520401.1:c.230+9975A>G
NM_000038.5:c.3353A>G	NP_000029.2:p.Asn1118Ser
NM_001127510.2:c.3353A>G	NP_001120982.1:p.Asn1118Ser
NM_001127511.2:c.3299A>G	NP_001120983.2:p.Asn1100Ser
NM_001354895.1:c.3353A>G	NP_001341824.1:p.Asn1118Ser
NM_001354896.1:c.3407A>G	NP_001341825.1:p.Asn1136Ser
NM_001354897.1:c.3383A>G	NP_001341826.1:p.Asn1128Ser
NM_001354898.1:c.3278A>G	NP_001341827.1:p.Asn1093Ser
NM_001354899.1:c.3269A>G	NP_001341828.1:p.Asn1090Ser
NM_001354900.1:c.3230A>G	NP_001341829.1:p.Asn1077Ser
NM_001354901.1:c.3176A>G	NP_001341830.1:p.Asn1059Ser
NM_001354902.1:c.3080A>G	NP_001341831.1:p.Asn1027Ser
NM_001354903.1:c.3050A>G	NP_001341832.1:p.Asn1017Ser
NM_001354904.1:c.2975A>G	NP_001341833.1:p.Asn992Ser
NM_001354905.1:c.2873A>G	NP_001341834.1:p.Asn958Ser
NM_001354906.1:c.2504A>G	NP_001341835.1:p.Asn835Ser
NM_000038.6:c.3353A>G MANE Select	NP_000029.2:p.Asn1118Ser
NM_001127510.3:c.3353A>G	NP_001120982.1:p.Asn1118Ser
NM_001127511.3:c.3299A>G	NP_001120983.2:p.Asn1100Ser
NM_001354895.2:c.3353A>G	NP_001341824.1:p.Asn1118Ser
NM_001354896.2:c.3407A>G	NP_001341825.1:p.Asn1136Ser
NM_001354897.2:c.3383A>G	NP_001341826.1:p.Asn1128Ser
NM_001354898.2:c.3278A>G	NP_001341827.1:p.Asn1093Ser
NM_001354899.2:c.3269A>G	NP_001341828.1:p.Asn1090Ser
NM_001354900.2:c.3230A>G	NP_001341829.1:p.Asn1077Ser
NM_001354901.2:c.3176A>G	NP_001341830.1:p.Asn1059Ser
NM_001354902.2:c.3080A>G	NP_001341831.1:p.Asn1027Ser
NM_001354903.2:c.3050A>G	NP_001341832.1:p.Asn1017Ser
NM_001354904.2:c.2975A>G	NP_001341833.1:p.Asn992Ser
NM_001354905.2:c.2873A>G	NP_001341834.1:p.Asn958Ser
NM_001354906.2:c.2504A>G	NP_001341835.1:p.Asn835Ser