Canonical Allele Identifier: CA16024885

Gene: APC

Linked Data

• COSMIC: COSM6260122
• MyVariant Identifiers: chr5:g.112164563G>T (hg19) ; chr5:g.112828866G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112828866G>T , CM000667.2:g.112828866G>T	GRCh38
NC_000005.9:g.112164563G>T , CM000667.1:g.112164563G>T	GRCh37
NC_000005.8:g.112192462G>T	NCBI36
NG_008481.4:g.141346G>T , LRG_130:g.141346G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1409-6085G>T	ENSP00000484935.2:n.1409-6085G>T
ENST00000504915.3:c.1691G>T	ENSP00000473355.2:p.Ser564Ile
ENST00000505084.2:n.1693G>T
ENST00000505350.2:c.*1643G>T	ENSP00000481752.1:n.*1643G>T
ENST00000507379.6:c.1583G>T	ENSP00000423224.2:p.Ser528Ile
ENST00000509732.6:c.1637G>T	ENSP00000426541.2:p.Ser546Ile
ENST00000512211.7:c.1637G>T	ENSP00000423828.3:p.Ser546Ile
ENST00000257430.9:c.1637G>T MANE Select	ENSP00000257430.4:p.Ser546Ile
ENST00000257430.8:c.1637G>T	ENSP00000257430.4:p.Ser546Ile
ENST00000502371.2:c.97-6085G>T
ENST00000504915.2:c.326G>T	ENSP00000473355.1:p.Ser109Ile
ENST00000505084.1:n.124G>T
ENST00000507379.5:c.1583G>T	ENSP00000423224.1:p.Ser528Ile
ENST00000508376.6:c.1637G>T	ENSP00000427089.2:p.Ser546Ile
ENST00000508624.5:c.*959G>T	ENSP00000424265.1:n.*959G>T
ENST00000512211.6:c.1637G>T	ENSP00000423828.2:p.Ser546Ile
ENST00000520401.1:c.124G>T
NM_000038.5:c.1637G>T	NP_000029.2:p.Ser546Ile
NM_001127510.2:c.1637G>T	NP_001120982.1:p.Ser546Ile
NM_001127511.2:c.1583G>T	NP_001120983.2:p.Ser528Ile
NM_001354895.1:c.1637G>T	NP_001341824.1:p.Ser546Ile
NM_001354896.1:c.1691G>T	NP_001341825.1:p.Ser564Ile
NM_001354897.1:c.1667G>T	NP_001341826.1:p.Ser556Ile
NM_001354898.1:c.1562G>T	NP_001341827.1:p.Ser521Ile
NM_001354899.1:c.1553G>T	NP_001341828.1:p.Ser518Ile
NM_001354900.1:c.1514G>T	NP_001341829.1:p.Ser505Ile
NM_001354901.1:c.1460G>T	NP_001341830.1:p.Ser487Ile
NM_001354902.1:c.1364G>T	NP_001341831.1:p.Ser455Ile
NM_001354903.1:c.1334G>T	NP_001341832.1:p.Ser445Ile
NM_001354904.1:c.1259G>T	NP_001341833.1:p.Ser420Ile
NM_001354905.1:c.1157G>T	NP_001341834.1:p.Ser386Ile
NM_001354906.1:c.788G>T	NP_001341835.1:p.Ser263Ile
NM_000038.6:c.1637G>T MANE Select	NP_000029.2:p.Ser546Ile
NM_001127510.3:c.1637G>T	NP_001120982.1:p.Ser546Ile
NM_001127511.3:c.1583G>T	NP_001120983.2:p.Ser528Ile
NM_001354895.2:c.1637G>T	NP_001341824.1:p.Ser546Ile
NM_001354896.2:c.1691G>T	NP_001341825.1:p.Ser564Ile
NM_001354897.2:c.1667G>T	NP_001341826.1:p.Ser556Ile
NM_001354898.2:c.1562G>T	NP_001341827.1:p.Ser521Ile
NM_001354899.2:c.1553G>T	NP_001341828.1:p.Ser518Ile
NM_001354900.2:c.1514G>T	NP_001341829.1:p.Ser505Ile
NM_001354901.2:c.1460G>T	NP_001341830.1:p.Ser487Ile
NM_001354902.2:c.1364G>T	NP_001341831.1:p.Ser455Ile
NM_001354903.2:c.1334G>T	NP_001341832.1:p.Ser445Ile
NM_001354904.2:c.1259G>T	NP_001341833.1:p.Ser420Ile
NM_001354905.2:c.1157G>T	NP_001341834.1:p.Ser386Ile
NM_001354906.2:c.788G>T	NP_001341835.1:p.Ser263Ile