Canonical Allele Identifier: CA445757385

Gene: APC

Linked Data

• ClinVar Variation Id: 2087948
• ClinVar RCV Id: RCV003744855 ; RCV004068518
• gnomAD v4: 5-112828882-G-A
• MyVariant Identifiers: chr5:g.112164579G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112828882G>A , CM000667.2:g.112828882G>A	GRCh38
NC_000005.9:g.112164579G>A , CM000667.1:g.112164579G>A	GRCh37
NC_000005.8:g.112192478G>A	NCBI36
NG_008481.4:g.141362G>A , LRG_130:g.141362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1409-6069G>A	ENSP00000484935.2:n.1409-6069G>A
ENST00000504915.3:c.1707G>A	ENSP00000473355.2:p.Leu569=
ENST00000505084.2:n.1709G>A
ENST00000505350.2:c.*1659G>A	ENSP00000481752.1:n.*1659G>A
ENST00000507379.6:c.1599G>A	ENSP00000423224.2:p.Leu533=
ENST00000509732.6:c.1653G>A	ENSP00000426541.2:p.Leu551=
ENST00000512211.7:c.1653G>A	ENSP00000423828.3:p.Leu551=
ENST00000257430.9:c.1653G>A MANE Select	ENSP00000257430.4:p.Leu551=
ENST00000257430.8:c.1653G>A	ENSP00000257430.4:p.Leu551=
ENST00000502371.2:c.97-6069G>A
ENST00000504915.2:c.342G>A	ENSP00000473355.1:p.Leu114=
ENST00000505084.1:n.140G>A
ENST00000507379.5:c.1599G>A	ENSP00000423224.1:p.Leu533=
ENST00000508376.6:c.1653G>A	ENSP00000427089.2:p.Leu551=
ENST00000508624.5:c.*975G>A	ENSP00000424265.1:n.*975G>A
ENST00000512211.6:c.1653G>A	ENSP00000423828.2:p.Leu551=
ENST00000520401.1:c.140G>A
NM_000038.5:c.1653G>A	NP_000029.2:p.Leu551=
NM_001127510.2:c.1653G>A	NP_001120982.1:p.Leu551=
NM_001127511.2:c.1599G>A	NP_001120983.2:p.Leu533=
NM_001354895.1:c.1653G>A	NP_001341824.1:p.Leu551=
NM_001354896.1:c.1707G>A	NP_001341825.1:p.Leu569=
NM_001354897.1:c.1683G>A	NP_001341826.1:p.Leu561=
NM_001354898.1:c.1578G>A	NP_001341827.1:p.Leu526=
NM_001354899.1:c.1569G>A	NP_001341828.1:p.Leu523=
NM_001354900.1:c.1530G>A	NP_001341829.1:p.Leu510=
NM_001354901.1:c.1476G>A	NP_001341830.1:p.Leu492=
NM_001354902.1:c.1380G>A	NP_001341831.1:p.Leu460=
NM_001354903.1:c.1350G>A	NP_001341832.1:p.Leu450=
NM_001354904.1:c.1275G>A	NP_001341833.1:p.Leu425=
NM_001354905.1:c.1173G>A	NP_001341834.1:p.Leu391=
NM_001354906.1:c.804G>A	NP_001341835.1:p.Leu268=
NM_000038.6:c.1653G>A MANE Select	NP_000029.2:p.Leu551=
NM_001127510.3:c.1653G>A	NP_001120982.1:p.Leu551=
NM_001127511.3:c.1599G>A	NP_001120983.2:p.Leu533=
NM_001354895.2:c.1653G>A	NP_001341824.1:p.Leu551=
NM_001354896.2:c.1707G>A	NP_001341825.1:p.Leu569=
NM_001354897.2:c.1683G>A	NP_001341826.1:p.Leu561=
NM_001354898.2:c.1578G>A	NP_001341827.1:p.Leu526=
NM_001354899.2:c.1569G>A	NP_001341828.1:p.Leu523=
NM_001354900.2:c.1530G>A	NP_001341829.1:p.Leu510=
NM_001354901.2:c.1476G>A	NP_001341830.1:p.Leu492=
NM_001354902.2:c.1380G>A	NP_001341831.1:p.Leu460=
NM_001354903.2:c.1350G>A	NP_001341832.1:p.Leu450=
NM_001354904.2:c.1275G>A	NP_001341833.1:p.Leu425=
NM_001354905.2:c.1173G>A	NP_001341834.1:p.Leu391=
NM_001354906.2:c.804G>A	NP_001341835.1:p.Leu268=