Canonical Allele Identifier: CA16029692

Gene: APC

Linked Data

• ClinVar Variation Id: 657747
• ClinVar RCV Id: RCV003536029
• dbSNP Id: rs1580640499
• MyVariant Identifiers: chr5:g.112175102T>C (hg19) ; chr5:g.112839405T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839405T>C , CM000667.2:g.112839405T>C	GRCh38
NC_000005.9:g.112175102T>C , CM000667.1:g.112175102T>C	GRCh37
NC_000005.8:g.112203001T>C	NCBI36
NG_008481.4:g.151885T>C , LRG_130:g.151885T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.3476T>C	ENSP00000484935.2:n.3476T>C
ENST00000504915.3:c.3865T>C	ENSP00000473355.2:p.Phe1289Leu
ENST00000505350.2:c.*3817T>C	ENSP00000481752.1:n.*3817T>C
ENST00000507379.6:c.3757T>C	ENSP00000423224.2:p.Phe1253Leu
ENST00000509732.6:c.3811T>C	ENSP00000426541.2:p.Phe1271Leu
ENST00000512211.7:c.3811T>C	ENSP00000423828.3:p.Phe1271Leu
ENST00000257430.9:c.3811T>C MANE Select	ENSP00000257430.4:p.Phe1271Leu
ENST00000257430.8:c.3811T>C	ENSP00000257430.4:p.Phe1271Leu
ENST00000502371.2:c.2164T>C
ENST00000508376.6:c.3811T>C	ENSP00000427089.2:p.Phe1271Leu
ENST00000508624.5:c.*3133T>C	ENSP00000424265.1:n.*3133T>C
ENST00000512211.6:c.3811T>C	ENSP00000423828.2:p.Phe1271Leu
ENST00000520401.1:c.230+10433T>C
NM_000038.5:c.3811T>C	NP_000029.2:p.Phe1271Leu
NM_001127510.2:c.3811T>C	NP_001120982.1:p.Phe1271Leu
NM_001127511.2:c.3757T>C	NP_001120983.2:p.Phe1253Leu
NM_001354895.1:c.3811T>C	NP_001341824.1:p.Phe1271Leu
NM_001354896.1:c.3865T>C	NP_001341825.1:p.Phe1289Leu
NM_001354897.1:c.3841T>C	NP_001341826.1:p.Phe1281Leu
NM_001354898.1:c.3736T>C	NP_001341827.1:p.Phe1246Leu
NM_001354899.1:c.3727T>C	NP_001341828.1:p.Phe1243Leu
NM_001354900.1:c.3688T>C	NP_001341829.1:p.Phe1230Leu
NM_001354901.1:c.3634T>C	NP_001341830.1:p.Phe1212Leu
NM_001354902.1:c.3538T>C	NP_001341831.1:p.Phe1180Leu
NM_001354903.1:c.3508T>C	NP_001341832.1:p.Phe1170Leu
NM_001354904.1:c.3433T>C	NP_001341833.1:p.Phe1145Leu
NM_001354905.1:c.3331T>C	NP_001341834.1:p.Phe1111Leu
NM_001354906.1:c.2962T>C	NP_001341835.1:p.Phe988Leu
NM_000038.6:c.3811T>C MANE Select	NP_000029.2:p.Phe1271Leu
NM_001127510.3:c.3811T>C	NP_001120982.1:p.Phe1271Leu
NM_001127511.3:c.3757T>C	NP_001120983.2:p.Phe1253Leu
NM_001354895.2:c.3811T>C	NP_001341824.1:p.Phe1271Leu
NM_001354896.2:c.3865T>C	NP_001341825.1:p.Phe1289Leu
NM_001354897.2:c.3841T>C	NP_001341826.1:p.Phe1281Leu
NM_001354898.2:c.3736T>C	NP_001341827.1:p.Phe1246Leu
NM_001354899.2:c.3727T>C	NP_001341828.1:p.Phe1243Leu
NM_001354900.2:c.3688T>C	NP_001341829.1:p.Phe1230Leu
NM_001354901.2:c.3634T>C	NP_001341830.1:p.Phe1212Leu
NM_001354902.2:c.3538T>C	NP_001341831.1:p.Phe1180Leu
NM_001354903.2:c.3508T>C	NP_001341832.1:p.Phe1170Leu
NM_001354904.2:c.3433T>C	NP_001341833.1:p.Phe1145Leu
NM_001354905.2:c.3331T>C	NP_001341834.1:p.Phe1111Leu
NM_001354906.2:c.2962T>C	NP_001341835.1:p.Phe988Leu