Canonical Allele Identifier: CA10578436

Gene: APC

Linked Data

• ClinVar Variation Id: 232068
• ClinVar RCV Id: RCV000215820 ; RCV003765423
• dbSNP Id: rs876659534
• MyVariant Identifiers: chr5:g.112178151G>A (hg19) ; chr5:g.112842454G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842454G>A , CM000667.2:g.112842454G>A	GRCh38
NC_000005.9:g.112178151G>A , CM000667.1:g.112178151G>A	GRCh37
NC_000005.8:g.112206050G>A	NCBI36
NG_008481.4:g.154934G>A , LRG_130:g.154934G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.6914G>A	ENSP00000473355.2:p.Arg2305Lys
ENST00000505350.2:c.*6866G>A	ENSP00000481752.1:n.*6866G>A
ENST00000507379.6:c.6806G>A	ENSP00000423224.2:p.Arg2269Lys
ENST00000509732.6:c.6860G>A	ENSP00000426541.2:p.Arg2287Lys
ENST00000512211.7:c.6860G>A	ENSP00000423828.3:p.Arg2287Lys
ENST00000257430.9:c.6860G>A MANE Select	ENSP00000257430.4:p.Arg2287Lys
ENST00000257430.8:c.6860G>A	ENSP00000257430.4:p.Arg2287Lys
ENST00000508376.6:c.6860G>A	ENSP00000427089.2:p.Arg2287Lys
ENST00000508624.5:c.*6182G>A	ENSP00000424265.1:n.*6182G>A
ENST00000520401.1:c.230+13482G>A
NM_000038.5:c.6860G>A	NP_000029.2:p.Arg2287Lys
NM_001127510.2:c.6860G>A	NP_001120982.1:p.Arg2287Lys
NM_001127511.2:c.6806G>A	NP_001120983.2:p.Arg2269Lys
NM_001354895.1:c.6860G>A	NP_001341824.1:p.Arg2287Lys
NM_001354896.1:c.6914G>A	NP_001341825.1:p.Arg2305Lys
NM_001354897.1:c.6890G>A	NP_001341826.1:p.Arg2297Lys
NM_001354898.1:c.6785G>A	NP_001341827.1:p.Arg2262Lys
NM_001354899.1:c.6776G>A	NP_001341828.1:p.Arg2259Lys
NM_001354900.1:c.6737G>A	NP_001341829.1:p.Arg2246Lys
NM_001354901.1:c.6683G>A	NP_001341830.1:p.Arg2228Lys
NM_001354902.1:c.6587G>A	NP_001341831.1:p.Arg2196Lys
NM_001354903.1:c.6557G>A	NP_001341832.1:p.Arg2186Lys
NM_001354904.1:c.6482G>A	NP_001341833.1:p.Arg2161Lys
NM_001354905.1:c.6380G>A	NP_001341834.1:p.Arg2127Lys
NM_001354906.1:c.6011G>A	NP_001341835.1:p.Arg2004Lys
NM_000038.6:c.6860G>A MANE Select	NP_000029.2:p.Arg2287Lys
NM_001127510.3:c.6860G>A	NP_001120982.1:p.Arg2287Lys
NM_001127511.3:c.6806G>A	NP_001120983.2:p.Arg2269Lys
NM_001354895.2:c.6860G>A	NP_001341824.1:p.Arg2287Lys
NM_001354896.2:c.6914G>A	NP_001341825.1:p.Arg2305Lys
NM_001354897.2:c.6890G>A	NP_001341826.1:p.Arg2297Lys
NM_001354898.2:c.6785G>A	NP_001341827.1:p.Arg2262Lys
NM_001354899.2:c.6776G>A	NP_001341828.1:p.Arg2259Lys
NM_001354900.2:c.6737G>A	NP_001341829.1:p.Arg2246Lys
NM_001354901.2:c.6683G>A	NP_001341830.1:p.Arg2228Lys
NM_001354902.2:c.6587G>A	NP_001341831.1:p.Arg2196Lys
NM_001354903.2:c.6557G>A	NP_001341832.1:p.Arg2186Lys
NM_001354904.2:c.6482G>A	NP_001341833.1:p.Arg2161Lys
NM_001354905.2:c.6380G>A	NP_001341834.1:p.Arg2127Lys
NM_001354906.2:c.6011G>A	NP_001341835.1:p.Arg2004Lys