Canonical Allele Identifier: CA445755919

Gene: APC

Linked Data

• ClinVar Variation Id: 482478
• ClinVar RCV Id: RCV000570855 ; RCV002231600
• dbSNP Id: rs1554081682
• gnomAD v4: 5-112827160-G-A
• MyVariant Identifiers: chr5:g.112162857G>A (hg19) ; chr5:g.112827160G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112827160G>A , CM000667.2:g.112827160G>A	GRCh38
NC_000005.9:g.112162857G>A , CM000667.1:g.112162857G>A	GRCh37
NC_000005.8:g.112190756G>A	NCBI36
NG_008481.4:g.139640G>A , LRG_130:g.139640G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1408+5169G>A	ENSP00000484935.2:n.1408+5169G>A
ENST00000504915.3:c.1515G>A	ENSP00000473355.2:p.Gly505=
ENST00000505084.2:n.1517G>A
ENST00000505350.2:c.*1467G>A	ENSP00000481752.1:n.*1467G>A
ENST00000507379.6:c.1407G>A	ENSP00000423224.2:p.Gly469=
ENST00000509732.6:c.1461G>A	ENSP00000426541.2:p.Gly487=
ENST00000512211.7:c.1461G>A	ENSP00000423828.3:p.Gly487=
ENST00000257430.9:c.1461G>A MANE Select	ENSP00000257430.4:p.Gly487=
ENST00000257430.8:c.1461G>A	ENSP00000257430.4:p.Gly487=
ENST00000502371.2:c.96+5169G>A
ENST00000504915.2:c.150G>A	ENSP00000473355.1:p.Gly50=
ENST00000507379.5:c.1407G>A	ENSP00000423224.1:p.Gly469=
ENST00000508376.6:c.1461G>A	ENSP00000427089.2:p.Gly487=
ENST00000508624.5:c.*783G>A	ENSP00000424265.1:n.*783G>A
ENST00000512211.6:c.1461G>A	ENSP00000423828.2:p.Gly487=
NM_000038.5:c.1461G>A	NP_000029.2:p.Gly487=
NM_001127510.2:c.1461G>A	NP_001120982.1:p.Gly487=
NM_001127511.2:c.1407G>A	NP_001120983.2:p.Gly469=
NM_001354895.1:c.1461G>A	NP_001341824.1:p.Gly487=
NM_001354896.1:c.1515G>A	NP_001341825.1:p.Gly505=
NM_001354897.1:c.1491G>A	NP_001341826.1:p.Gly497=
NM_001354898.1:c.1386G>A	NP_001341827.1:p.Gly462=
NM_001354899.1:c.1377G>A	NP_001341828.1:p.Gly459=
NM_001354900.1:c.1338G>A	NP_001341829.1:p.Gly446=
NM_001354901.1:c.1284G>A	NP_001341830.1:p.Gly428=
NM_001354902.1:c.1188G>A	NP_001341831.1:p.Gly396=
NM_001354903.1:c.1158G>A	NP_001341832.1:p.Gly386=
NM_001354904.1:c.1083G>A	NP_001341833.1:p.Gly361=
NM_001354905.1:c.981G>A	NP_001341834.1:p.Gly327=
NM_001354906.1:c.612G>A	NP_001341835.1:p.Gly204=
NM_000038.6:c.1461G>A MANE Select	NP_000029.2:p.Gly487=
NM_001127510.3:c.1461G>A	NP_001120982.1:p.Gly487=
NM_001127511.3:c.1407G>A	NP_001120983.2:p.Gly469=
NM_001354895.2:c.1461G>A	NP_001341824.1:p.Gly487=
NM_001354896.2:c.1515G>A	NP_001341825.1:p.Gly505=
NM_001354897.2:c.1491G>A	NP_001341826.1:p.Gly497=
NM_001354898.2:c.1386G>A	NP_001341827.1:p.Gly462=
NM_001354899.2:c.1377G>A	NP_001341828.1:p.Gly459=
NM_001354900.2:c.1338G>A	NP_001341829.1:p.Gly446=
NM_001354901.2:c.1284G>A	NP_001341830.1:p.Gly428=
NM_001354902.2:c.1188G>A	NP_001341831.1:p.Gly396=
NM_001354903.2:c.1158G>A	NP_001341832.1:p.Gly386=
NM_001354904.2:c.1083G>A	NP_001341833.1:p.Gly361=
NM_001354905.2:c.981G>A	NP_001341834.1:p.Gly327=
NM_001354906.2:c.612G>A	NP_001341835.1:p.Gly204=