Canonical Allele Identifier: CA16039106

Gene: APC

Linked Data

• ClinVar Variation Id: 1363960
• ClinVar RCV Id: RCV003772552
• dbSNP Id: rs1060503348
• MyVariant Identifiers: chr5:g.112179479G>C (hg19) ; chr5:g.112843782G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843782G>C , CM000667.2:g.112843782G>C	GRCh38
NC_000005.9:g.112179479G>C , CM000667.1:g.112179479G>C	GRCh37
NC_000005.8:g.112207378G>C	NCBI36
NG_008481.4:g.156262G>C , LRG_130:g.156262G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8242G>C	ENSP00000473355.2:p.Ala2748Pro
ENST00000505350.2:c.*8194G>C	ENSP00000481752.1:n.*8194G>C
ENST00000507379.6:c.8134G>C	ENSP00000423224.2:p.Ala2712Pro
ENST00000509732.6:c.8188G>C	ENSP00000426541.2:p.Ala2730Pro
ENST00000512211.7:c.8188G>C	ENSP00000423828.3:p.Ala2730Pro
ENST00000257430.9:c.8188G>C MANE Select	ENSP00000257430.4:p.Ala2730Pro
ENST00000257430.8:c.8188G>C	ENSP00000257430.4:p.Ala2730Pro
ENST00000508376.6:c.8188G>C	ENSP00000427089.2:p.Ala2730Pro
ENST00000520401.1:c.231-12867G>C
NM_000038.5:c.8188G>C	NP_000029.2:p.Ala2730Pro
NM_001127510.2:c.8188G>C	NP_001120982.1:p.Ala2730Pro
NM_001127511.2:c.8134G>C	NP_001120983.2:p.Ala2712Pro
NM_001354895.1:c.8188G>C	NP_001341824.1:p.Ala2730Pro
NM_001354896.1:c.8242G>C	NP_001341825.1:p.Ala2748Pro
NM_001354897.1:c.8218G>C	NP_001341826.1:p.Ala2740Pro
NM_001354898.1:c.8113G>C	NP_001341827.1:p.Ala2705Pro
NM_001354899.1:c.8104G>C	NP_001341828.1:p.Ala2702Pro
NM_001354900.1:c.8065G>C	NP_001341829.1:p.Ala2689Pro
NM_001354901.1:c.8011G>C	NP_001341830.1:p.Ala2671Pro
NM_001354902.1:c.7915G>C	NP_001341831.1:p.Ala2639Pro
NM_001354903.1:c.7885G>C	NP_001341832.1:p.Ala2629Pro
NM_001354904.1:c.7810G>C	NP_001341833.1:p.Ala2604Pro
NM_001354905.1:c.7708G>C	NP_001341834.1:p.Ala2570Pro
NM_001354906.1:c.7339G>C	NP_001341835.1:p.Ala2447Pro
NM_000038.6:c.8188G>C MANE Select	NP_000029.2:p.Ala2730Pro
NM_001127510.3:c.8188G>C	NP_001120982.1:p.Ala2730Pro
NM_001127511.3:c.8134G>C	NP_001120983.2:p.Ala2712Pro
NM_001354895.2:c.8188G>C	NP_001341824.1:p.Ala2730Pro
NM_001354896.2:c.8242G>C	NP_001341825.1:p.Ala2748Pro
NM_001354897.2:c.8218G>C	NP_001341826.1:p.Ala2740Pro
NM_001354898.2:c.8113G>C	NP_001341827.1:p.Ala2705Pro
NM_001354899.2:c.8104G>C	NP_001341828.1:p.Ala2702Pro
NM_001354900.2:c.8065G>C	NP_001341829.1:p.Ala2689Pro
NM_001354901.2:c.8011G>C	NP_001341830.1:p.Ala2671Pro
NM_001354902.2:c.7915G>C	NP_001341831.1:p.Ala2639Pro
NM_001354903.2:c.7885G>C	NP_001341832.1:p.Ala2629Pro
NM_001354904.2:c.7810G>C	NP_001341833.1:p.Ala2604Pro
NM_001354905.2:c.7708G>C	NP_001341834.1:p.Ala2570Pro
NM_001354906.2:c.7339G>C	NP_001341835.1:p.Ala2447Pro