Canonical Allele Identifier: CA16036502

Gene: APC

Linked Data

• ClinVar Variation Id: 628011
• ClinVar RCV Id: RCV000772285 ; RCV003465691
• dbSNP Id: rs1561611537
• gnomAD v4: 5-112842550-G-A
• MyVariant Identifiers: chr5:g.112178247G>A (hg19) ; chr5:g.112842550G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842550G>A , CM000667.2:g.112842550G>A	GRCh38
NC_000005.9:g.112178247G>A , CM000667.1:g.112178247G>A	GRCh37
NC_000005.8:g.112206146G>A	NCBI36
NG_008481.4:g.155030G>A , LRG_130:g.155030G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7010G>A	ENSP00000473355.2:p.Arg2337Lys
ENST00000505350.2:c.*6962G>A	ENSP00000481752.1:n.*6962G>A
ENST00000507379.6:c.6902G>A	ENSP00000423224.2:p.Arg2301Lys
ENST00000509732.6:c.6956G>A	ENSP00000426541.2:p.Arg2319Lys
ENST00000512211.7:c.6956G>A	ENSP00000423828.3:p.Arg2319Lys
ENST00000257430.9:c.6956G>A MANE Select	ENSP00000257430.4:p.Arg2319Lys
ENST00000257430.8:c.6956G>A	ENSP00000257430.4:p.Arg2319Lys
ENST00000508376.6:c.6956G>A	ENSP00000427089.2:p.Arg2319Lys
ENST00000508624.5:c.*6278G>A	ENSP00000424265.1:n.*6278G>A
ENST00000520401.1:c.230+13578G>A
NM_000038.5:c.6956G>A	NP_000029.2:p.Arg2319Lys
NM_001127510.2:c.6956G>A	NP_001120982.1:p.Arg2319Lys
NM_001127511.2:c.6902G>A	NP_001120983.2:p.Arg2301Lys
NM_001354895.1:c.6956G>A	NP_001341824.1:p.Arg2319Lys
NM_001354896.1:c.7010G>A	NP_001341825.1:p.Arg2337Lys
NM_001354897.1:c.6986G>A	NP_001341826.1:p.Arg2329Lys
NM_001354898.1:c.6881G>A	NP_001341827.1:p.Arg2294Lys
NM_001354899.1:c.6872G>A	NP_001341828.1:p.Arg2291Lys
NM_001354900.1:c.6833G>A	NP_001341829.1:p.Arg2278Lys
NM_001354901.1:c.6779G>A	NP_001341830.1:p.Arg2260Lys
NM_001354902.1:c.6683G>A	NP_001341831.1:p.Arg2228Lys
NM_001354903.1:c.6653G>A	NP_001341832.1:p.Arg2218Lys
NM_001354904.1:c.6578G>A	NP_001341833.1:p.Arg2193Lys
NM_001354905.1:c.6476G>A	NP_001341834.1:p.Arg2159Lys
NM_001354906.1:c.6107G>A	NP_001341835.1:p.Arg2036Lys
NM_000038.6:c.6956G>A MANE Select	NP_000029.2:p.Arg2319Lys
NM_001127510.3:c.6956G>A	NP_001120982.1:p.Arg2319Lys
NM_001127511.3:c.6902G>A	NP_001120983.2:p.Arg2301Lys
NM_001354895.2:c.6956G>A	NP_001341824.1:p.Arg2319Lys
NM_001354896.2:c.7010G>A	NP_001341825.1:p.Arg2337Lys
NM_001354897.2:c.6986G>A	NP_001341826.1:p.Arg2329Lys
NM_001354898.2:c.6881G>A	NP_001341827.1:p.Arg2294Lys
NM_001354899.2:c.6872G>A	NP_001341828.1:p.Arg2291Lys
NM_001354900.2:c.6833G>A	NP_001341829.1:p.Arg2278Lys
NM_001354901.2:c.6779G>A	NP_001341830.1:p.Arg2260Lys
NM_001354902.2:c.6683G>A	NP_001341831.1:p.Arg2228Lys
NM_001354903.2:c.6653G>A	NP_001341832.1:p.Arg2218Lys
NM_001354904.2:c.6578G>A	NP_001341833.1:p.Arg2193Lys
NM_001354905.2:c.6476G>A	NP_001341834.1:p.Arg2159Lys
NM_001354906.2:c.6107G>A	NP_001341835.1:p.Arg2036Lys