Canonical Allele Identifier: CA16036697

Gene: APC

Linked Data

• ClinVar Variation Id: 3231142
• ClinVar RCV Id: RCV004525213
• dbSNP Id: rs2149978977
• MyVariant Identifiers: chr5:g.112178342C>T (hg19) ; chr5:g.112842645C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842645C>T , CM000667.2:g.112842645C>T	GRCh38
NC_000005.9:g.112178342C>T , CM000667.1:g.112178342C>T	GRCh37
NC_000005.8:g.112206241C>T	NCBI36
NG_008481.4:g.155125C>T , LRG_130:g.155125C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7105C>T	ENSP00000473355.2:p.Pro2369Ser
ENST00000505350.2:c.*7057C>T	ENSP00000481752.1:n.*7057C>T
ENST00000507379.6:c.6997C>T	ENSP00000423224.2:p.Pro2333Ser
ENST00000509732.6:c.7051C>T	ENSP00000426541.2:p.Pro2351Ser
ENST00000512211.7:c.7051C>T	ENSP00000423828.3:p.Pro2351Ser
ENST00000257430.9:c.7051C>T MANE Select	ENSP00000257430.4:p.Pro2351Ser
ENST00000257430.8:c.7051C>T	ENSP00000257430.4:p.Pro2351Ser
ENST00000508376.6:c.7051C>T	ENSP00000427089.2:p.Pro2351Ser
ENST00000508624.5:c.*6373C>T	ENSP00000424265.1:n.*6373C>T
ENST00000520401.1:c.230+13673C>T
NM_000038.5:c.7051C>T	NP_000029.2:p.Pro2351Ser
NM_001127510.2:c.7051C>T	NP_001120982.1:p.Pro2351Ser
NM_001127511.2:c.6997C>T	NP_001120983.2:p.Pro2333Ser
NM_001354895.1:c.7051C>T	NP_001341824.1:p.Pro2351Ser
NM_001354896.1:c.7105C>T	NP_001341825.1:p.Pro2369Ser
NM_001354897.1:c.7081C>T	NP_001341826.1:p.Pro2361Ser
NM_001354898.1:c.6976C>T	NP_001341827.1:p.Pro2326Ser
NM_001354899.1:c.6967C>T	NP_001341828.1:p.Pro2323Ser
NM_001354900.1:c.6928C>T	NP_001341829.1:p.Pro2310Ser
NM_001354901.1:c.6874C>T	NP_001341830.1:p.Pro2292Ser
NM_001354902.1:c.6778C>T	NP_001341831.1:p.Pro2260Ser
NM_001354903.1:c.6748C>T	NP_001341832.1:p.Pro2250Ser
NM_001354904.1:c.6673C>T	NP_001341833.1:p.Pro2225Ser
NM_001354905.1:c.6571C>T	NP_001341834.1:p.Pro2191Ser
NM_001354906.1:c.6202C>T	NP_001341835.1:p.Pro2068Ser
NM_000038.6:c.7051C>T MANE Select	NP_000029.2:p.Pro2351Ser
NM_001127510.3:c.7051C>T	NP_001120982.1:p.Pro2351Ser
NM_001127511.3:c.6997C>T	NP_001120983.2:p.Pro2333Ser
NM_001354895.2:c.7051C>T	NP_001341824.1:p.Pro2351Ser
NM_001354896.2:c.7105C>T	NP_001341825.1:p.Pro2369Ser
NM_001354897.2:c.7081C>T	NP_001341826.1:p.Pro2361Ser
NM_001354898.2:c.6976C>T	NP_001341827.1:p.Pro2326Ser
NM_001354899.2:c.6967C>T	NP_001341828.1:p.Pro2323Ser
NM_001354900.2:c.6928C>T	NP_001341829.1:p.Pro2310Ser
NM_001354901.2:c.6874C>T	NP_001341830.1:p.Pro2292Ser
NM_001354902.2:c.6778C>T	NP_001341831.1:p.Pro2260Ser
NM_001354903.2:c.6748C>T	NP_001341832.1:p.Pro2250Ser
NM_001354904.2:c.6673C>T	NP_001341833.1:p.Pro2225Ser
NM_001354905.2:c.6571C>T	NP_001341834.1:p.Pro2191Ser
NM_001354906.2:c.6202C>T	NP_001341835.1:p.Pro2068Ser