Canonical Allele Identifier: CA16038805

Gene: APC

Linked Data

• ClinVar Variation Id: 1317229
• ClinVar RCV Id: RCV001759101
• dbSNP Id: rs1561620223
• MyVariant Identifiers: chr5:g.112179339T>G (hg19) ; chr5:g.112843642T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843642T>G , CM000667.2:g.112843642T>G	GRCh38
NC_000005.9:g.112179339T>G , CM000667.1:g.112179339T>G	GRCh37
NC_000005.8:g.112207238T>G	NCBI36
NG_008481.4:g.156122T>G , LRG_130:g.156122T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.8102T>G	ENSP00000473355.2:p.Ile2701Ser
ENST00000505350.2:c.*8054T>G	ENSP00000481752.1:n.*8054T>G
ENST00000507379.6:c.7994T>G	ENSP00000423224.2:p.Ile2665Ser
ENST00000509732.6:c.8048T>G	ENSP00000426541.2:p.Ile2683Ser
ENST00000512211.7:c.8048T>G	ENSP00000423828.3:p.Ile2683Ser
ENST00000257430.9:c.8048T>G MANE Select	ENSP00000257430.4:p.Ile2683Ser
ENST00000257430.8:c.8048T>G	ENSP00000257430.4:p.Ile2683Ser
ENST00000508376.6:c.8048T>G	ENSP00000427089.2:p.Ile2683Ser
ENST00000520401.1:c.231-13007T>G
NM_000038.5:c.8048T>G	NP_000029.2:p.Ile2683Ser
NM_001127510.2:c.8048T>G	NP_001120982.1:p.Ile2683Ser
NM_001127511.2:c.7994T>G	NP_001120983.2:p.Ile2665Ser
NM_001354895.1:c.8048T>G	NP_001341824.1:p.Ile2683Ser
NM_001354896.1:c.8102T>G	NP_001341825.1:p.Ile2701Ser
NM_001354897.1:c.8078T>G	NP_001341826.1:p.Ile2693Ser
NM_001354898.1:c.7973T>G	NP_001341827.1:p.Ile2658Ser
NM_001354899.1:c.7964T>G	NP_001341828.1:p.Ile2655Ser
NM_001354900.1:c.7925T>G	NP_001341829.1:p.Ile2642Ser
NM_001354901.1:c.7871T>G	NP_001341830.1:p.Ile2624Ser
NM_001354902.1:c.7775T>G	NP_001341831.1:p.Ile2592Ser
NM_001354903.1:c.7745T>G	NP_001341832.1:p.Ile2582Ser
NM_001354904.1:c.7670T>G	NP_001341833.1:p.Ile2557Ser
NM_001354905.1:c.7568T>G	NP_001341834.1:p.Ile2523Ser
NM_001354906.1:c.7199T>G	NP_001341835.1:p.Ile2400Ser
NM_000038.6:c.8048T>G MANE Select	NP_000029.2:p.Ile2683Ser
NM_001127510.3:c.8048T>G	NP_001120982.1:p.Ile2683Ser
NM_001127511.3:c.7994T>G	NP_001120983.2:p.Ile2665Ser
NM_001354895.2:c.8048T>G	NP_001341824.1:p.Ile2683Ser
NM_001354896.2:c.8102T>G	NP_001341825.1:p.Ile2701Ser
NM_001354897.2:c.8078T>G	NP_001341826.1:p.Ile2693Ser
NM_001354898.2:c.7973T>G	NP_001341827.1:p.Ile2658Ser
NM_001354899.2:c.7964T>G	NP_001341828.1:p.Ile2655Ser
NM_001354900.2:c.7925T>G	NP_001341829.1:p.Ile2642Ser
NM_001354901.2:c.7871T>G	NP_001341830.1:p.Ile2624Ser
NM_001354902.2:c.7775T>G	NP_001341831.1:p.Ile2592Ser
NM_001354903.2:c.7745T>G	NP_001341832.1:p.Ile2582Ser
NM_001354904.2:c.7670T>G	NP_001341833.1:p.Ile2557Ser
NM_001354905.2:c.7568T>G	NP_001341834.1:p.Ile2523Ser
NM_001354906.2:c.7199T>G	NP_001341835.1:p.Ile2400Ser