Canonical Allele Identifier: CA16031564

Gene: APC

Linked Data

• ClinVar Variation Id: 844169
• ClinVar RCV Id: RCV002339237 ; RCV003649309
• dbSNP Id: rs573468341
• MyVariant Identifiers: chr5:g.112175958C>G (hg19) ; chr5:g.112840261C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840261C>G , CM000667.2:g.112840261C>G	GRCh38
NC_000005.9:g.112175958C>G , CM000667.1:g.112175958C>G	GRCh37
NC_000005.8:g.112203857C>G	NCBI36
NG_008481.4:g.152741C>G , LRG_130:g.152741C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4721C>G	ENSP00000473355.2:p.Thr1574Ser
ENST00000505350.2:c.*4673C>G	ENSP00000481752.1:n.*4673C>G
ENST00000507379.6:c.4613C>G	ENSP00000423224.2:p.Thr1538Ser
ENST00000509732.6:c.4667C>G	ENSP00000426541.2:p.Thr1556Ser
ENST00000512211.7:c.4667C>G	ENSP00000423828.3:p.Thr1556Ser
ENST00000257430.9:c.4667C>G MANE Select	ENSP00000257430.4:p.Thr1556Ser
ENST00000257430.8:c.4667C>G	ENSP00000257430.4:p.Thr1556Ser
ENST00000508376.6:c.4667C>G	ENSP00000427089.2:p.Thr1556Ser
ENST00000508624.5:c.*3989C>G	ENSP00000424265.1:n.*3989C>G
ENST00000520401.1:c.230+11289C>G
NM_000038.5:c.4667C>G	NP_000029.2:p.Thr1556Ser
NM_001127510.2:c.4667C>G	NP_001120982.1:p.Thr1556Ser
NM_001127511.2:c.4613C>G	NP_001120983.2:p.Thr1538Ser
NM_001354895.1:c.4667C>G	NP_001341824.1:p.Thr1556Ser
NM_001354896.1:c.4721C>G	NP_001341825.1:p.Thr1574Ser
NM_001354897.1:c.4697C>G	NP_001341826.1:p.Thr1566Ser
NM_001354898.1:c.4592C>G	NP_001341827.1:p.Thr1531Ser
NM_001354899.1:c.4583C>G	NP_001341828.1:p.Thr1528Ser
NM_001354900.1:c.4544C>G	NP_001341829.1:p.Thr1515Ser
NM_001354901.1:c.4490C>G	NP_001341830.1:p.Thr1497Ser
NM_001354902.1:c.4394C>G	NP_001341831.1:p.Thr1465Ser
NM_001354903.1:c.4364C>G	NP_001341832.1:p.Thr1455Ser
NM_001354904.1:c.4289C>G	NP_001341833.1:p.Thr1430Ser
NM_001354905.1:c.4187C>G	NP_001341834.1:p.Thr1396Ser
NM_001354906.1:c.3818C>G	NP_001341835.1:p.Thr1273Ser
NM_000038.6:c.4667C>G MANE Select	NP_000029.2:p.Thr1556Ser
NM_001127510.3:c.4667C>G	NP_001120982.1:p.Thr1556Ser
NM_001127511.3:c.4613C>G	NP_001120983.2:p.Thr1538Ser
NM_001354895.2:c.4667C>G	NP_001341824.1:p.Thr1556Ser
NM_001354896.2:c.4721C>G	NP_001341825.1:p.Thr1574Ser
NM_001354897.2:c.4697C>G	NP_001341826.1:p.Thr1566Ser
NM_001354898.2:c.4592C>G	NP_001341827.1:p.Thr1531Ser
NM_001354899.2:c.4583C>G	NP_001341828.1:p.Thr1528Ser
NM_001354900.2:c.4544C>G	NP_001341829.1:p.Thr1515Ser
NM_001354901.2:c.4490C>G	NP_001341830.1:p.Thr1497Ser
NM_001354902.2:c.4394C>G	NP_001341831.1:p.Thr1465Ser
NM_001354903.2:c.4364C>G	NP_001341832.1:p.Thr1455Ser
NM_001354904.2:c.4289C>G	NP_001341833.1:p.Thr1430Ser
NM_001354905.2:c.4187C>G	NP_001341834.1:p.Thr1396Ser
NM_001354906.2:c.3818C>G	NP_001341835.1:p.Thr1273Ser