Canonical Allele Identifier: CA16031563

Gene: APC

Linked Data

• ClinVar Variation Id: 1001543
• ClinVar RCV Id: RCV001751567 ; RCV003166668 ; RCV003652128
• dbSNP Id: rs769631477
• gnomAD v4: 5-112840260-A-T
• MyVariant Identifiers: chr5:g.112175957A>T (hg19) ; chr5:g.112840260A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840260A>T , CM000667.2:g.112840260A>T	GRCh38
NC_000005.9:g.112175957A>T , CM000667.1:g.112175957A>T	GRCh37
NC_000005.8:g.112203856A>T	NCBI36
NG_008481.4:g.152740A>T , LRG_130:g.152740A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4720A>T	ENSP00000473355.2:p.Thr1574Ser
ENST00000505350.2:c.*4672A>T	ENSP00000481752.1:n.*4672A>T
ENST00000507379.6:c.4612A>T	ENSP00000423224.2:p.Thr1538Ser
ENST00000509732.6:c.4666A>T	ENSP00000426541.2:p.Thr1556Ser
ENST00000512211.7:c.4666A>T	ENSP00000423828.3:p.Thr1556Ser
ENST00000257430.9:c.4666A>T MANE Select	ENSP00000257430.4:p.Thr1556Ser
ENST00000257430.8:c.4666A>T	ENSP00000257430.4:p.Thr1556Ser
ENST00000508376.6:c.4666A>T	ENSP00000427089.2:p.Thr1556Ser
ENST00000508624.5:c.*3988A>T	ENSP00000424265.1:n.*3988A>T
ENST00000520401.1:c.230+11288A>T
NM_000038.5:c.4666A>T	NP_000029.2:p.Thr1556Ser
NM_001127510.2:c.4666A>T	NP_001120982.1:p.Thr1556Ser
NM_001127511.2:c.4612A>T	NP_001120983.2:p.Thr1538Ser
NM_001354895.1:c.4666A>T	NP_001341824.1:p.Thr1556Ser
NM_001354896.1:c.4720A>T	NP_001341825.1:p.Thr1574Ser
NM_001354897.1:c.4696A>T	NP_001341826.1:p.Thr1566Ser
NM_001354898.1:c.4591A>T	NP_001341827.1:p.Thr1531Ser
NM_001354899.1:c.4582A>T	NP_001341828.1:p.Thr1528Ser
NM_001354900.1:c.4543A>T	NP_001341829.1:p.Thr1515Ser
NM_001354901.1:c.4489A>T	NP_001341830.1:p.Thr1497Ser
NM_001354902.1:c.4393A>T	NP_001341831.1:p.Thr1465Ser
NM_001354903.1:c.4363A>T	NP_001341832.1:p.Thr1455Ser
NM_001354904.1:c.4288A>T	NP_001341833.1:p.Thr1430Ser
NM_001354905.1:c.4186A>T	NP_001341834.1:p.Thr1396Ser
NM_001354906.1:c.3817A>T	NP_001341835.1:p.Thr1273Ser
NM_000038.6:c.4666A>T MANE Select	NP_000029.2:p.Thr1556Ser
NM_001127510.3:c.4666A>T	NP_001120982.1:p.Thr1556Ser
NM_001127511.3:c.4612A>T	NP_001120983.2:p.Thr1538Ser
NM_001354895.2:c.4666A>T	NP_001341824.1:p.Thr1556Ser
NM_001354896.2:c.4720A>T	NP_001341825.1:p.Thr1574Ser
NM_001354897.2:c.4696A>T	NP_001341826.1:p.Thr1566Ser
NM_001354898.2:c.4591A>T	NP_001341827.1:p.Thr1531Ser
NM_001354899.2:c.4582A>T	NP_001341828.1:p.Thr1528Ser
NM_001354900.2:c.4543A>T	NP_001341829.1:p.Thr1515Ser
NM_001354901.2:c.4489A>T	NP_001341830.1:p.Thr1497Ser
NM_001354902.2:c.4393A>T	NP_001341831.1:p.Thr1465Ser
NM_001354903.2:c.4363A>T	NP_001341832.1:p.Thr1455Ser
NM_001354904.2:c.4288A>T	NP_001341833.1:p.Thr1430Ser
NM_001354905.2:c.4186A>T	NP_001341834.1:p.Thr1396Ser
NM_001354906.2:c.3817A>T	NP_001341835.1:p.Thr1273Ser