Canonical Allele Identifier: CA339419

Gene: APC

Linked Data

• ClinVar Variation Id: 216165
• ClinVar RCV Id: RCV000564170 ; RCV003765278 ; RCV003996976
• dbSNP Id: rs200803739
• gnomAD v4: 5-112840165-T-G
• MyVariant Identifiers: chr5:g.112175862T>G (hg19) ; chr5:g.112840165T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840165T>G , CM000667.2:g.112840165T>G	GRCh38
NC_000005.9:g.112175862T>G , CM000667.1:g.112175862T>G	GRCh37
NC_000005.8:g.112203761T>G	NCBI36
NG_008481.4:g.152645T>G , LRG_130:g.152645T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4625T>G	ENSP00000473355.2:p.Ile1542Arg
ENST00000505350.2:c.*4577T>G	ENSP00000481752.1:n.*4577T>G
ENST00000507379.6:c.4517T>G	ENSP00000423224.2:p.Ile1506Arg
ENST00000509732.6:c.4571T>G	ENSP00000426541.2:p.Ile1524Arg
ENST00000512211.7:c.4571T>G	ENSP00000423828.3:p.Ile1524Arg
ENST00000257430.9:c.4571T>G MANE Select	ENSP00000257430.4:p.Ile1524Arg
ENST00000257430.8:c.4571T>G	ENSP00000257430.4:p.Ile1524Arg
ENST00000508376.6:c.4571T>G	ENSP00000427089.2:p.Ile1524Arg
ENST00000508624.5:c.*3893T>G	ENSP00000424265.1:n.*3893T>G
ENST00000520401.1:c.230+11193T>G
NM_000038.5:c.4571T>G	NP_000029.2:p.Ile1524Arg
NM_001127510.2:c.4571T>G	NP_001120982.1:p.Ile1524Arg
NM_001127511.2:c.4517T>G	NP_001120983.2:p.Ile1506Arg
NM_001354895.1:c.4571T>G	NP_001341824.1:p.Ile1524Arg
NM_001354896.1:c.4625T>G	NP_001341825.1:p.Ile1542Arg
NM_001354897.1:c.4601T>G	NP_001341826.1:p.Ile1534Arg
NM_001354898.1:c.4496T>G	NP_001341827.1:p.Ile1499Arg
NM_001354899.1:c.4487T>G	NP_001341828.1:p.Ile1496Arg
NM_001354900.1:c.4448T>G	NP_001341829.1:p.Ile1483Arg
NM_001354901.1:c.4394T>G	NP_001341830.1:p.Ile1465Arg
NM_001354902.1:c.4298T>G	NP_001341831.1:p.Ile1433Arg
NM_001354903.1:c.4268T>G	NP_001341832.1:p.Ile1423Arg
NM_001354904.1:c.4193T>G	NP_001341833.1:p.Ile1398Arg
NM_001354905.1:c.4091T>G	NP_001341834.1:p.Ile1364Arg
NM_001354906.1:c.3722T>G	NP_001341835.1:p.Ile1241Arg
NM_000038.6:c.4571T>G MANE Select	NP_000029.2:p.Ile1524Arg
NM_001127510.3:c.4571T>G	NP_001120982.1:p.Ile1524Arg
NM_001127511.3:c.4517T>G	NP_001120983.2:p.Ile1506Arg
NM_001354895.2:c.4571T>G	NP_001341824.1:p.Ile1524Arg
NM_001354896.2:c.4625T>G	NP_001341825.1:p.Ile1542Arg
NM_001354897.2:c.4601T>G	NP_001341826.1:p.Ile1534Arg
NM_001354898.2:c.4496T>G	NP_001341827.1:p.Ile1499Arg
NM_001354899.2:c.4487T>G	NP_001341828.1:p.Ile1496Arg
NM_001354900.2:c.4448T>G	NP_001341829.1:p.Ile1483Arg
NM_001354901.2:c.4394T>G	NP_001341830.1:p.Ile1465Arg
NM_001354902.2:c.4298T>G	NP_001341831.1:p.Ile1433Arg
NM_001354903.2:c.4268T>G	NP_001341832.1:p.Ile1423Arg
NM_001354904.2:c.4193T>G	NP_001341833.1:p.Ile1398Arg
NM_001354905.2:c.4091T>G	NP_001341834.1:p.Ile1364Arg
NM_001354906.2:c.3722T>G	NP_001341835.1:p.Ile1241Arg