Canonical Allele Identifier: CA445963657

Gene: APC

Linked Data

• ClinVar Variation Id: 1730524
• ClinVar RCV Id: RCV002320992
• MyVariant Identifiers: chr5:g.112174642T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838945T>C , CM000667.2:g.112838945T>C	GRCh38
NC_000005.9:g.112174642T>C , CM000667.1:g.112174642T>C	GRCh37
NC_000005.8:g.112202541T>C	NCBI36
NG_008481.4:g.151425T>C , LRG_130:g.151425T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3016T>C	ENSP00000484935.2:n.3016T>C
ENST00000504915.3:c.3405T>C	ENSP00000473355.2:p.Ser1135=
ENST00000505350.2:c.*3357T>C	ENSP00000481752.1:n.*3357T>C
ENST00000507379.6:c.3297T>C	ENSP00000423224.2:p.Ser1099=
ENST00000509732.6:c.3351T>C	ENSP00000426541.2:p.Ser1117=
ENST00000512211.7:c.3351T>C	ENSP00000423828.3:p.Ser1117=
ENST00000257430.9:c.3351T>C MANE Select	ENSP00000257430.4:p.Ser1117=
ENST00000257430.8:c.3351T>C	ENSP00000257430.4:p.Ser1117=
ENST00000502371.2:c.1704T>C
ENST00000507379.5:c.3297T>C	ENSP00000423224.1:p.Ser1099=
ENST00000508376.6:c.3351T>C	ENSP00000427089.2:p.Ser1117=
ENST00000508624.5:c.*2673T>C	ENSP00000424265.1:n.*2673T>C
ENST00000512211.6:c.3351T>C	ENSP00000423828.2:p.Ser1117=
ENST00000520401.1:c.230+9973T>C
NM_000038.5:c.3351T>C	NP_000029.2:p.Ser1117=
NM_001127510.2:c.3351T>C	NP_001120982.1:p.Ser1117=
NM_001127511.2:c.3297T>C	NP_001120983.2:p.Ser1099=
NM_001354895.1:c.3351T>C	NP_001341824.1:p.Ser1117=
NM_001354896.1:c.3405T>C	NP_001341825.1:p.Ser1135=
NM_001354897.1:c.3381T>C	NP_001341826.1:p.Ser1127=
NM_001354898.1:c.3276T>C	NP_001341827.1:p.Ser1092=
NM_001354899.1:c.3267T>C	NP_001341828.1:p.Ser1089=
NM_001354900.1:c.3228T>C	NP_001341829.1:p.Ser1076=
NM_001354901.1:c.3174T>C	NP_001341830.1:p.Ser1058=
NM_001354902.1:c.3078T>C	NP_001341831.1:p.Ser1026=
NM_001354903.1:c.3048T>C	NP_001341832.1:p.Ser1016=
NM_001354904.1:c.2973T>C	NP_001341833.1:p.Ser991=
NM_001354905.1:c.2871T>C	NP_001341834.1:p.Ser957=
NM_001354906.1:c.2502T>C	NP_001341835.1:p.Ser834=
NM_000038.6:c.3351T>C MANE Select	NP_000029.2:p.Ser1117=
NM_001127510.3:c.3351T>C	NP_001120982.1:p.Ser1117=
NM_001127511.3:c.3297T>C	NP_001120983.2:p.Ser1099=
NM_001354895.2:c.3351T>C	NP_001341824.1:p.Ser1117=
NM_001354896.2:c.3405T>C	NP_001341825.1:p.Ser1135=
NM_001354897.2:c.3381T>C	NP_001341826.1:p.Ser1127=
NM_001354898.2:c.3276T>C	NP_001341827.1:p.Ser1092=
NM_001354899.2:c.3267T>C	NP_001341828.1:p.Ser1089=
NM_001354900.2:c.3228T>C	NP_001341829.1:p.Ser1076=
NM_001354901.2:c.3174T>C	NP_001341830.1:p.Ser1058=
NM_001354902.2:c.3078T>C	NP_001341831.1:p.Ser1026=
NM_001354903.2:c.3048T>C	NP_001341832.1:p.Ser1016=
NM_001354904.2:c.2973T>C	NP_001341833.1:p.Ser991=
NM_001354905.2:c.2871T>C	NP_001341834.1:p.Ser957=
NM_001354906.2:c.2502T>C	NP_001341835.1:p.Ser834=