Canonical Allele Identifier: CA16032213

Gene: APC

Linked Data

• ClinVar Variation Id: 928193
• ClinVar RCV Id: RCV001191960
• dbSNP Id: rs1765817345
• MyVariant Identifiers: chr5:g.112176263A>C (hg19) ; chr5:g.112840566A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840566A>C , CM000667.2:g.112840566A>C	GRCh38
NC_000005.9:g.112176263A>C , CM000667.1:g.112176263A>C	GRCh37
NC_000005.8:g.112204162A>C	NCBI36
NG_008481.4:g.153046A>C , LRG_130:g.153046A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5026A>C	ENSP00000473355.2:p.Ser1676Arg
ENST00000505350.2:c.*4978A>C	ENSP00000481752.1:n.*4978A>C
ENST00000507379.6:c.4918A>C	ENSP00000423224.2:p.Ser1640Arg
ENST00000509732.6:c.4972A>C	ENSP00000426541.2:p.Ser1658Arg
ENST00000512211.7:c.4972A>C	ENSP00000423828.3:p.Ser1658Arg
ENST00000257430.9:c.4972A>C MANE Select	ENSP00000257430.4:p.Ser1658Arg
ENST00000257430.8:c.4972A>C	ENSP00000257430.4:p.Ser1658Arg
ENST00000508376.6:c.4972A>C	ENSP00000427089.2:p.Ser1658Arg
ENST00000508624.5:c.*4294A>C	ENSP00000424265.1:n.*4294A>C
ENST00000520401.1:c.230+11594A>C
NM_000038.5:c.4972A>C	NP_000029.2:p.Ser1658Arg
NM_001127510.2:c.4972A>C	NP_001120982.1:p.Ser1658Arg
NM_001127511.2:c.4918A>C	NP_001120983.2:p.Ser1640Arg
NM_001354895.1:c.4972A>C	NP_001341824.1:p.Ser1658Arg
NM_001354896.1:c.5026A>C	NP_001341825.1:p.Ser1676Arg
NM_001354897.1:c.5002A>C	NP_001341826.1:p.Ser1668Arg
NM_001354898.1:c.4897A>C	NP_001341827.1:p.Ser1633Arg
NM_001354899.1:c.4888A>C	NP_001341828.1:p.Ser1630Arg
NM_001354900.1:c.4849A>C	NP_001341829.1:p.Ser1617Arg
NM_001354901.1:c.4795A>C	NP_001341830.1:p.Ser1599Arg
NM_001354902.1:c.4699A>C	NP_001341831.1:p.Ser1567Arg
NM_001354903.1:c.4669A>C	NP_001341832.1:p.Ser1557Arg
NM_001354904.1:c.4594A>C	NP_001341833.1:p.Ser1532Arg
NM_001354905.1:c.4492A>C	NP_001341834.1:p.Ser1498Arg
NM_001354906.1:c.4123A>C	NP_001341835.1:p.Ser1375Arg
NM_000038.6:c.4972A>C MANE Select	NP_000029.2:p.Ser1658Arg
NM_001127510.3:c.4972A>C	NP_001120982.1:p.Ser1658Arg
NM_001127511.3:c.4918A>C	NP_001120983.2:p.Ser1640Arg
NM_001354895.2:c.4972A>C	NP_001341824.1:p.Ser1658Arg
NM_001354896.2:c.5026A>C	NP_001341825.1:p.Ser1676Arg
NM_001354897.2:c.5002A>C	NP_001341826.1:p.Ser1668Arg
NM_001354898.2:c.4897A>C	NP_001341827.1:p.Ser1633Arg
NM_001354899.2:c.4888A>C	NP_001341828.1:p.Ser1630Arg
NM_001354900.2:c.4849A>C	NP_001341829.1:p.Ser1617Arg
NM_001354901.2:c.4795A>C	NP_001341830.1:p.Ser1599Arg
NM_001354902.2:c.4699A>C	NP_001341831.1:p.Ser1567Arg
NM_001354903.2:c.4669A>C	NP_001341832.1:p.Ser1557Arg
NM_001354904.2:c.4594A>C	NP_001341833.1:p.Ser1532Arg
NM_001354905.2:c.4492A>C	NP_001341834.1:p.Ser1498Arg
NM_001354906.2:c.4123A>C	NP_001341835.1:p.Ser1375Arg