Canonical Allele Identifier: CA16029114

Gene: APC

Linked Data

• ClinVar Variation Id: 433648
• ClinVar RCV Id: RCV000503307 ; RCV003337299
• dbSNP Id: rs1554085102
• MyVariant Identifiers: chr5:g.112174833T>A (hg19) ; chr5:g.112839136T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839136T>A , CM000667.2:g.112839136T>A	GRCh38
NC_000005.9:g.112174833T>A , CM000667.1:g.112174833T>A	GRCh37
NC_000005.8:g.112202732T>A	NCBI36
NG_008481.4:g.151616T>A , LRG_130:g.151616T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3207T>A	ENSP00000484935.2:n.3207T>A
ENST00000504915.3:c.3596T>A	ENSP00000473355.2:p.Leu1199Ter
ENST00000505350.2:c.*3548T>A	ENSP00000481752.1:n.*3548T>A
ENST00000507379.6:c.3488T>A	ENSP00000423224.2:p.Leu1163Ter
ENST00000509732.6:c.3542T>A	ENSP00000426541.2:p.Leu1181Ter
ENST00000512211.7:c.3542T>A	ENSP00000423828.3:p.Leu1181Ter
ENST00000257430.9:c.3542T>A MANE Select	ENSP00000257430.4:p.Leu1181Ter
ENST00000257430.8:c.3542T>A	ENSP00000257430.4:p.Leu1181Ter
ENST00000502371.2:c.1895T>A
ENST00000508376.6:c.3542T>A	ENSP00000427089.2:p.Leu1181Ter
ENST00000508624.5:c.*2864T>A	ENSP00000424265.1:n.*2864T>A
ENST00000512211.6:c.3542T>A	ENSP00000423828.2:p.Leu1181Ter
ENST00000520401.1:c.230+10164T>A
NM_000038.5:c.3542T>A	NP_000029.2:p.Leu1181Ter
NM_001127510.2:c.3542T>A	NP_001120982.1:p.Leu1181Ter
NM_001127511.2:c.3488T>A	NP_001120983.2:p.Leu1163Ter
NM_001354895.1:c.3542T>A	NP_001341824.1:p.Leu1181Ter
NM_001354896.1:c.3596T>A	NP_001341825.1:p.Leu1199Ter
NM_001354897.1:c.3572T>A	NP_001341826.1:p.Leu1191Ter
NM_001354898.1:c.3467T>A	NP_001341827.1:p.Leu1156Ter
NM_001354899.1:c.3458T>A	NP_001341828.1:p.Leu1153Ter
NM_001354900.1:c.3419T>A	NP_001341829.1:p.Leu1140Ter
NM_001354901.1:c.3365T>A	NP_001341830.1:p.Leu1122Ter
NM_001354902.1:c.3269T>A	NP_001341831.1:p.Leu1090Ter
NM_001354903.1:c.3239T>A	NP_001341832.1:p.Leu1080Ter
NM_001354904.1:c.3164T>A	NP_001341833.1:p.Leu1055Ter
NM_001354905.1:c.3062T>A	NP_001341834.1:p.Leu1021Ter
NM_001354906.1:c.2693T>A	NP_001341835.1:p.Leu898Ter
NM_000038.6:c.3542T>A MANE Select	NP_000029.2:p.Leu1181Ter
NM_001127510.3:c.3542T>A	NP_001120982.1:p.Leu1181Ter
NM_001127511.3:c.3488T>A	NP_001120983.2:p.Leu1163Ter
NM_001354895.2:c.3542T>A	NP_001341824.1:p.Leu1181Ter
NM_001354896.2:c.3596T>A	NP_001341825.1:p.Leu1199Ter
NM_001354897.2:c.3572T>A	NP_001341826.1:p.Leu1191Ter
NM_001354898.2:c.3467T>A	NP_001341827.1:p.Leu1156Ter
NM_001354899.2:c.3458T>A	NP_001341828.1:p.Leu1153Ter
NM_001354900.2:c.3419T>A	NP_001341829.1:p.Leu1140Ter
NM_001354901.2:c.3365T>A	NP_001341830.1:p.Leu1122Ter
NM_001354902.2:c.3269T>A	NP_001341831.1:p.Leu1090Ter
NM_001354903.2:c.3239T>A	NP_001341832.1:p.Leu1080Ter
NM_001354904.2:c.3164T>A	NP_001341833.1:p.Leu1055Ter
NM_001354905.2:c.3062T>A	NP_001341834.1:p.Leu1021Ter
NM_001354906.2:c.2693T>A	NP_001341835.1:p.Leu898Ter