Canonical Allele Identifier: CA16038452

Gene: APC

Linked Data

• ClinVar Variation Id: 1052468
• ClinVar RCV Id: RCV003771065
• dbSNP Id: rs1580687626
• MyVariant Identifiers: chr5:g.112179170T>G (hg19) ; chr5:g.112843473T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843473T>G , CM000667.2:g.112843473T>G	GRCh38
NC_000005.9:g.112179170T>G , CM000667.1:g.112179170T>G	GRCh37
NC_000005.8:g.112207069T>G	NCBI36
NG_008481.4:g.155953T>G , LRG_130:g.155953T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7933T>G	ENSP00000473355.2:p.Ser2645Ala
ENST00000505350.2:c.*7885T>G	ENSP00000481752.1:n.*7885T>G
ENST00000507379.6:c.7825T>G	ENSP00000423224.2:p.Ser2609Ala
ENST00000509732.6:c.7879T>G	ENSP00000426541.2:p.Ser2627Ala
ENST00000512211.7:c.7879T>G	ENSP00000423828.3:p.Ser2627Ala
ENST00000257430.9:c.7879T>G MANE Select	ENSP00000257430.4:p.Ser2627Ala
ENST00000257430.8:c.7879T>G	ENSP00000257430.4:p.Ser2627Ala
ENST00000508376.6:c.7879T>G	ENSP00000427089.2:p.Ser2627Ala
ENST00000520401.1:c.231-13176T>G
NM_000038.5:c.7879T>G	NP_000029.2:p.Ser2627Ala
NM_001127510.2:c.7879T>G	NP_001120982.1:p.Ser2627Ala
NM_001127511.2:c.7825T>G	NP_001120983.2:p.Ser2609Ala
NM_001354895.1:c.7879T>G	NP_001341824.1:p.Ser2627Ala
NM_001354896.1:c.7933T>G	NP_001341825.1:p.Ser2645Ala
NM_001354897.1:c.7909T>G	NP_001341826.1:p.Ser2637Ala
NM_001354898.1:c.7804T>G	NP_001341827.1:p.Ser2602Ala
NM_001354899.1:c.7795T>G	NP_001341828.1:p.Ser2599Ala
NM_001354900.1:c.7756T>G	NP_001341829.1:p.Ser2586Ala
NM_001354901.1:c.7702T>G	NP_001341830.1:p.Ser2568Ala
NM_001354902.1:c.7606T>G	NP_001341831.1:p.Ser2536Ala
NM_001354903.1:c.7576T>G	NP_001341832.1:p.Ser2526Ala
NM_001354904.1:c.7501T>G	NP_001341833.1:p.Ser2501Ala
NM_001354905.1:c.7399T>G	NP_001341834.1:p.Ser2467Ala
NM_001354906.1:c.7030T>G	NP_001341835.1:p.Ser2344Ala
NM_000038.6:c.7879T>G MANE Select	NP_000029.2:p.Ser2627Ala
NM_001127510.3:c.7879T>G	NP_001120982.1:p.Ser2627Ala
NM_001127511.3:c.7825T>G	NP_001120983.2:p.Ser2609Ala
NM_001354895.2:c.7879T>G	NP_001341824.1:p.Ser2627Ala
NM_001354896.2:c.7933T>G	NP_001341825.1:p.Ser2645Ala
NM_001354897.2:c.7909T>G	NP_001341826.1:p.Ser2637Ala
NM_001354898.2:c.7804T>G	NP_001341827.1:p.Ser2602Ala
NM_001354899.2:c.7795T>G	NP_001341828.1:p.Ser2599Ala
NM_001354900.2:c.7756T>G	NP_001341829.1:p.Ser2586Ala
NM_001354901.2:c.7702T>G	NP_001341830.1:p.Ser2568Ala
NM_001354902.2:c.7606T>G	NP_001341831.1:p.Ser2536Ala
NM_001354903.2:c.7576T>G	NP_001341832.1:p.Ser2526Ala
NM_001354904.2:c.7501T>G	NP_001341833.1:p.Ser2501Ala
NM_001354905.2:c.7399T>G	NP_001341834.1:p.Ser2467Ala
NM_001354906.2:c.7030T>G	NP_001341835.1:p.Ser2344Ala