Canonical Allele Identifier: CA16038136

Gene: APC

Linked Data

• ClinVar Variation Id: 801041
• ClinVar RCV Id: RCV000985322 ; RCV002400156 ; RCV003649173
• dbSNP Id: rs1580686014
• MyVariant Identifiers: chr5:g.112179029T>G (hg19) ; chr5:g.112843332T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843332T>G , CM000667.2:g.112843332T>G	GRCh38
NC_000005.9:g.112179029T>G , CM000667.1:g.112179029T>G	GRCh37
NC_000005.8:g.112206928T>G	NCBI36
NG_008481.4:g.155812T>G , LRG_130:g.155812T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7792T>G	ENSP00000473355.2:p.Ser2598Ala
ENST00000505350.2:c.*7744T>G	ENSP00000481752.1:n.*7744T>G
ENST00000507379.6:c.7684T>G	ENSP00000423224.2:p.Ser2562Ala
ENST00000509732.6:c.7738T>G	ENSP00000426541.2:p.Ser2580Ala
ENST00000512211.7:c.7738T>G	ENSP00000423828.3:p.Ser2580Ala
ENST00000257430.9:c.7738T>G MANE Select	ENSP00000257430.4:p.Ser2580Ala
ENST00000257430.8:c.7738T>G	ENSP00000257430.4:p.Ser2580Ala
ENST00000508376.6:c.7738T>G	ENSP00000427089.2:p.Ser2580Ala
ENST00000520401.1:c.231-13317T>G
NM_000038.5:c.7738T>G	NP_000029.2:p.Ser2580Ala
NM_001127510.2:c.7738T>G	NP_001120982.1:p.Ser2580Ala
NM_001127511.2:c.7684T>G	NP_001120983.2:p.Ser2562Ala
NM_001354895.1:c.7738T>G	NP_001341824.1:p.Ser2580Ala
NM_001354896.1:c.7792T>G	NP_001341825.1:p.Ser2598Ala
NM_001354897.1:c.7768T>G	NP_001341826.1:p.Ser2590Ala
NM_001354898.1:c.7663T>G	NP_001341827.1:p.Ser2555Ala
NM_001354899.1:c.7654T>G	NP_001341828.1:p.Ser2552Ala
NM_001354900.1:c.7615T>G	NP_001341829.1:p.Ser2539Ala
NM_001354901.1:c.7561T>G	NP_001341830.1:p.Ser2521Ala
NM_001354902.1:c.7465T>G	NP_001341831.1:p.Ser2489Ala
NM_001354903.1:c.7435T>G	NP_001341832.1:p.Ser2479Ala
NM_001354904.1:c.7360T>G	NP_001341833.1:p.Ser2454Ala
NM_001354905.1:c.7258T>G	NP_001341834.1:p.Ser2420Ala
NM_001354906.1:c.6889T>G	NP_001341835.1:p.Ser2297Ala
NM_000038.6:c.7738T>G MANE Select	NP_000029.2:p.Ser2580Ala
NM_001127510.3:c.7738T>G	NP_001120982.1:p.Ser2580Ala
NM_001127511.3:c.7684T>G	NP_001120983.2:p.Ser2562Ala
NM_001354895.2:c.7738T>G	NP_001341824.1:p.Ser2580Ala
NM_001354896.2:c.7792T>G	NP_001341825.1:p.Ser2598Ala
NM_001354897.2:c.7768T>G	NP_001341826.1:p.Ser2590Ala
NM_001354898.2:c.7663T>G	NP_001341827.1:p.Ser2555Ala
NM_001354899.2:c.7654T>G	NP_001341828.1:p.Ser2552Ala
NM_001354900.2:c.7615T>G	NP_001341829.1:p.Ser2539Ala
NM_001354901.2:c.7561T>G	NP_001341830.1:p.Ser2521Ala
NM_001354902.2:c.7465T>G	NP_001341831.1:p.Ser2489Ala
NM_001354903.2:c.7435T>G	NP_001341832.1:p.Ser2479Ala
NM_001354904.2:c.7360T>G	NP_001341833.1:p.Ser2454Ala
NM_001354905.2:c.7258T>G	NP_001341834.1:p.Ser2420Ala
NM_001354906.2:c.6889T>G	NP_001341835.1:p.Ser2297Ala