Canonical Allele Identifier: CA16038666

Gene: APC

Linked Data

• ClinVar Variation Id: 3071949
• ClinVar RCV Id: RCV004011979
• dbSNP Id: rs2149997353
• MyVariant Identifiers: chr5:g.112179273T>C (hg19) ; chr5:g.112843576T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843576T>C , CM000667.2:g.112843576T>C	GRCh38
NC_000005.9:g.112179273T>C , CM000667.1:g.112179273T>C	GRCh37
NC_000005.8:g.112207172T>C	NCBI36
NG_008481.4:g.156056T>C , LRG_130:g.156056T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8036T>C	ENSP00000473355.2:p.Ile2679Thr
ENST00000505350.2:c.*7988T>C	ENSP00000481752.1:n.*7988T>C
ENST00000507379.6:c.7928T>C	ENSP00000423224.2:p.Ile2643Thr
ENST00000509732.6:c.7982T>C	ENSP00000426541.2:p.Ile2661Thr
ENST00000512211.7:c.7982T>C	ENSP00000423828.3:p.Ile2661Thr
ENST00000257430.9:c.7982T>C MANE Select	ENSP00000257430.4:p.Ile2661Thr
ENST00000257430.8:c.7982T>C	ENSP00000257430.4:p.Ile2661Thr
ENST00000508376.6:c.7982T>C	ENSP00000427089.2:p.Ile2661Thr
ENST00000520401.1:c.231-13073T>C
NM_000038.5:c.7982T>C	NP_000029.2:p.Ile2661Thr
NM_001127510.2:c.7982T>C	NP_001120982.1:p.Ile2661Thr
NM_001127511.2:c.7928T>C	NP_001120983.2:p.Ile2643Thr
NM_001354895.1:c.7982T>C	NP_001341824.1:p.Ile2661Thr
NM_001354896.1:c.8036T>C	NP_001341825.1:p.Ile2679Thr
NM_001354897.1:c.8012T>C	NP_001341826.1:p.Ile2671Thr
NM_001354898.1:c.7907T>C	NP_001341827.1:p.Ile2636Thr
NM_001354899.1:c.7898T>C	NP_001341828.1:p.Ile2633Thr
NM_001354900.1:c.7859T>C	NP_001341829.1:p.Ile2620Thr
NM_001354901.1:c.7805T>C	NP_001341830.1:p.Ile2602Thr
NM_001354902.1:c.7709T>C	NP_001341831.1:p.Ile2570Thr
NM_001354903.1:c.7679T>C	NP_001341832.1:p.Ile2560Thr
NM_001354904.1:c.7604T>C	NP_001341833.1:p.Ile2535Thr
NM_001354905.1:c.7502T>C	NP_001341834.1:p.Ile2501Thr
NM_001354906.1:c.7133T>C	NP_001341835.1:p.Ile2378Thr
NM_000038.6:c.7982T>C MANE Select	NP_000029.2:p.Ile2661Thr
NM_001127510.3:c.7982T>C	NP_001120982.1:p.Ile2661Thr
NM_001127511.3:c.7928T>C	NP_001120983.2:p.Ile2643Thr
NM_001354895.2:c.7982T>C	NP_001341824.1:p.Ile2661Thr
NM_001354896.2:c.8036T>C	NP_001341825.1:p.Ile2679Thr
NM_001354897.2:c.8012T>C	NP_001341826.1:p.Ile2671Thr
NM_001354898.2:c.7907T>C	NP_001341827.1:p.Ile2636Thr
NM_001354899.2:c.7898T>C	NP_001341828.1:p.Ile2633Thr
NM_001354900.2:c.7859T>C	NP_001341829.1:p.Ile2620Thr
NM_001354901.2:c.7805T>C	NP_001341830.1:p.Ile2602Thr
NM_001354902.2:c.7709T>C	NP_001341831.1:p.Ile2570Thr
NM_001354903.2:c.7679T>C	NP_001341832.1:p.Ile2560Thr
NM_001354904.2:c.7604T>C	NP_001341833.1:p.Ile2535Thr
NM_001354905.2:c.7502T>C	NP_001341834.1:p.Ile2501Thr
NM_001354906.2:c.7133T>C	NP_001341835.1:p.Ile2378Thr