Canonical Allele Identifier: CA16032197

Gene: APC

Linked Data

• ClinVar Variation Id: 1988396
• ClinVar RCV Id: RCV003776978
• MyVariant Identifiers: chr5:g.112176254A>C (hg19) ; chr5:g.112840557A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840557A>C , CM000667.2:g.112840557A>C	GRCh38
NC_000005.9:g.112176254A>C , CM000667.1:g.112176254A>C	GRCh37
NC_000005.8:g.112204153A>C	NCBI36
NG_008481.4:g.153037A>C , LRG_130:g.153037A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5017A>C	ENSP00000473355.2:p.Thr1673Pro
ENST00000505350.2:c.*4969A>C	ENSP00000481752.1:n.*4969A>C
ENST00000507379.6:c.4909A>C	ENSP00000423224.2:p.Thr1637Pro
ENST00000509732.6:c.4963A>C	ENSP00000426541.2:p.Thr1655Pro
ENST00000512211.7:c.4963A>C	ENSP00000423828.3:p.Thr1655Pro
ENST00000257430.9:c.4963A>C MANE Select	ENSP00000257430.4:p.Thr1655Pro
ENST00000257430.8:c.4963A>C	ENSP00000257430.4:p.Thr1655Pro
ENST00000508376.6:c.4963A>C	ENSP00000427089.2:p.Thr1655Pro
ENST00000508624.5:c.*4285A>C	ENSP00000424265.1:n.*4285A>C
ENST00000520401.1:c.230+11585A>C
NM_000038.5:c.4963A>C	NP_000029.2:p.Thr1655Pro
NM_001127510.2:c.4963A>C	NP_001120982.1:p.Thr1655Pro
NM_001127511.2:c.4909A>C	NP_001120983.2:p.Thr1637Pro
NM_001354895.1:c.4963A>C	NP_001341824.1:p.Thr1655Pro
NM_001354896.1:c.5017A>C	NP_001341825.1:p.Thr1673Pro
NM_001354897.1:c.4993A>C	NP_001341826.1:p.Thr1665Pro
NM_001354898.1:c.4888A>C	NP_001341827.1:p.Thr1630Pro
NM_001354899.1:c.4879A>C	NP_001341828.1:p.Thr1627Pro
NM_001354900.1:c.4840A>C	NP_001341829.1:p.Thr1614Pro
NM_001354901.1:c.4786A>C	NP_001341830.1:p.Thr1596Pro
NM_001354902.1:c.4690A>C	NP_001341831.1:p.Thr1564Pro
NM_001354903.1:c.4660A>C	NP_001341832.1:p.Thr1554Pro
NM_001354904.1:c.4585A>C	NP_001341833.1:p.Thr1529Pro
NM_001354905.1:c.4483A>C	NP_001341834.1:p.Thr1495Pro
NM_001354906.1:c.4114A>C	NP_001341835.1:p.Thr1372Pro
NM_000038.6:c.4963A>C MANE Select	NP_000029.2:p.Thr1655Pro
NM_001127510.3:c.4963A>C	NP_001120982.1:p.Thr1655Pro
NM_001127511.3:c.4909A>C	NP_001120983.2:p.Thr1637Pro
NM_001354895.2:c.4963A>C	NP_001341824.1:p.Thr1655Pro
NM_001354896.2:c.5017A>C	NP_001341825.1:p.Thr1673Pro
NM_001354897.2:c.4993A>C	NP_001341826.1:p.Thr1665Pro
NM_001354898.2:c.4888A>C	NP_001341827.1:p.Thr1630Pro
NM_001354899.2:c.4879A>C	NP_001341828.1:p.Thr1627Pro
NM_001354900.2:c.4840A>C	NP_001341829.1:p.Thr1614Pro
NM_001354901.2:c.4786A>C	NP_001341830.1:p.Thr1596Pro
NM_001354902.2:c.4690A>C	NP_001341831.1:p.Thr1564Pro
NM_001354903.2:c.4660A>C	NP_001341832.1:p.Thr1554Pro
NM_001354904.2:c.4585A>C	NP_001341833.1:p.Thr1529Pro
NM_001354905.2:c.4483A>C	NP_001341834.1:p.Thr1495Pro
NM_001354906.2:c.4114A>C	NP_001341835.1:p.Thr1372Pro