Canonical Allele Identifier: CA16038747

Gene: APC

Linked Data

• ClinVar Variation Id: 1761670
• ClinVar RCV Id: RCV002419243
• MyVariant Identifiers: chr5:g.112179309G>T (hg19) ; chr5:g.112843612G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843612G>T , CM000667.2:g.112843612G>T	GRCh38
NC_000005.9:g.112179309G>T , CM000667.1:g.112179309G>T	GRCh37
NC_000005.8:g.112207208G>T	NCBI36
NG_008481.4:g.156092G>T , LRG_130:g.156092G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8072G>T	ENSP00000473355.2:p.Arg2691Ile
ENST00000505350.2:c.*8024G>T	ENSP00000481752.1:n.*8024G>T
ENST00000507379.6:c.7964G>T	ENSP00000423224.2:p.Arg2655Ile
ENST00000509732.6:c.8018G>T	ENSP00000426541.2:p.Arg2673Ile
ENST00000512211.7:c.8018G>T	ENSP00000423828.3:p.Arg2673Ile
ENST00000257430.9:c.8018G>T MANE Select	ENSP00000257430.4:p.Arg2673Ile
ENST00000257430.8:c.8018G>T	ENSP00000257430.4:p.Arg2673Ile
ENST00000508376.6:c.8018G>T	ENSP00000427089.2:p.Arg2673Ile
ENST00000520401.1:c.231-13037G>T
NM_000038.5:c.8018G>T	NP_000029.2:p.Arg2673Ile
NM_001127510.2:c.8018G>T	NP_001120982.1:p.Arg2673Ile
NM_001127511.2:c.7964G>T	NP_001120983.2:p.Arg2655Ile
NM_001354895.1:c.8018G>T	NP_001341824.1:p.Arg2673Ile
NM_001354896.1:c.8072G>T	NP_001341825.1:p.Arg2691Ile
NM_001354897.1:c.8048G>T	NP_001341826.1:p.Arg2683Ile
NM_001354898.1:c.7943G>T	NP_001341827.1:p.Arg2648Ile
NM_001354899.1:c.7934G>T	NP_001341828.1:p.Arg2645Ile
NM_001354900.1:c.7895G>T	NP_001341829.1:p.Arg2632Ile
NM_001354901.1:c.7841G>T	NP_001341830.1:p.Arg2614Ile
NM_001354902.1:c.7745G>T	NP_001341831.1:p.Arg2582Ile
NM_001354903.1:c.7715G>T	NP_001341832.1:p.Arg2572Ile
NM_001354904.1:c.7640G>T	NP_001341833.1:p.Arg2547Ile
NM_001354905.1:c.7538G>T	NP_001341834.1:p.Arg2513Ile
NM_001354906.1:c.7169G>T	NP_001341835.1:p.Arg2390Ile
NM_000038.6:c.8018G>T MANE Select	NP_000029.2:p.Arg2673Ile
NM_001127510.3:c.8018G>T	NP_001120982.1:p.Arg2673Ile
NM_001127511.3:c.7964G>T	NP_001120983.2:p.Arg2655Ile
NM_001354895.2:c.8018G>T	NP_001341824.1:p.Arg2673Ile
NM_001354896.2:c.8072G>T	NP_001341825.1:p.Arg2691Ile
NM_001354897.2:c.8048G>T	NP_001341826.1:p.Arg2683Ile
NM_001354898.2:c.7943G>T	NP_001341827.1:p.Arg2648Ile
NM_001354899.2:c.7934G>T	NP_001341828.1:p.Arg2645Ile
NM_001354900.2:c.7895G>T	NP_001341829.1:p.Arg2632Ile
NM_001354901.2:c.7841G>T	NP_001341830.1:p.Arg2614Ile
NM_001354902.2:c.7745G>T	NP_001341831.1:p.Arg2582Ile
NM_001354903.2:c.7715G>T	NP_001341832.1:p.Arg2572Ile
NM_001354904.2:c.7640G>T	NP_001341833.1:p.Arg2547Ile
NM_001354905.2:c.7538G>T	NP_001341834.1:p.Arg2513Ile
NM_001354906.2:c.7169G>T	NP_001341835.1:p.Arg2390Ile