Canonical Allele Identifier: CA16038011

Gene: APC

Linked Data

• ClinVar Variation Id: 1760119
• ClinVar RCV Id: RCV002400495 ; RCV003099713
• MyVariant Identifiers: chr5:g.112178972G>A (hg19) ; chr5:g.112843275G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843275G>A , CM000667.2:g.112843275G>A	GRCh38
NC_000005.9:g.112178972G>A , CM000667.1:g.112178972G>A	GRCh37
NC_000005.8:g.112206871G>A	NCBI36
NG_008481.4:g.155755G>A , LRG_130:g.155755G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7735G>A	ENSP00000473355.2:p.Val2579Ile
ENST00000505350.2:c.*7687G>A	ENSP00000481752.1:n.*7687G>A
ENST00000507379.6:c.7627G>A	ENSP00000423224.2:p.Val2543Ile
ENST00000509732.6:c.7681G>A	ENSP00000426541.2:p.Val2561Ile
ENST00000512211.7:c.7681G>A	ENSP00000423828.3:p.Val2561Ile
ENST00000257430.9:c.7681G>A MANE Select	ENSP00000257430.4:p.Val2561Ile
ENST00000257430.8:c.7681G>A	ENSP00000257430.4:p.Val2561Ile
ENST00000508376.6:c.7681G>A	ENSP00000427089.2:p.Val2561Ile
ENST00000520401.1:c.231-13374G>A
NM_000038.5:c.7681G>A	NP_000029.2:p.Val2561Ile
NM_001127510.2:c.7681G>A	NP_001120982.1:p.Val2561Ile
NM_001127511.2:c.7627G>A	NP_001120983.2:p.Val2543Ile
NM_001354895.1:c.7681G>A	NP_001341824.1:p.Val2561Ile
NM_001354896.1:c.7735G>A	NP_001341825.1:p.Val2579Ile
NM_001354897.1:c.7711G>A	NP_001341826.1:p.Val2571Ile
NM_001354898.1:c.7606G>A	NP_001341827.1:p.Val2536Ile
NM_001354899.1:c.7597G>A	NP_001341828.1:p.Val2533Ile
NM_001354900.1:c.7558G>A	NP_001341829.1:p.Val2520Ile
NM_001354901.1:c.7504G>A	NP_001341830.1:p.Val2502Ile
NM_001354902.1:c.7408G>A	NP_001341831.1:p.Val2470Ile
NM_001354903.1:c.7378G>A	NP_001341832.1:p.Val2460Ile
NM_001354904.1:c.7303G>A	NP_001341833.1:p.Val2435Ile
NM_001354905.1:c.7201G>A	NP_001341834.1:p.Val2401Ile
NM_001354906.1:c.6832G>A	NP_001341835.1:p.Val2278Ile
NM_000038.6:c.7681G>A MANE Select	NP_000029.2:p.Val2561Ile
NM_001127510.3:c.7681G>A	NP_001120982.1:p.Val2561Ile
NM_001127511.3:c.7627G>A	NP_001120983.2:p.Val2543Ile
NM_001354895.2:c.7681G>A	NP_001341824.1:p.Val2561Ile
NM_001354896.2:c.7735G>A	NP_001341825.1:p.Val2579Ile
NM_001354897.2:c.7711G>A	NP_001341826.1:p.Val2571Ile
NM_001354898.2:c.7606G>A	NP_001341827.1:p.Val2536Ile
NM_001354899.2:c.7597G>A	NP_001341828.1:p.Val2533Ile
NM_001354900.2:c.7558G>A	NP_001341829.1:p.Val2520Ile
NM_001354901.2:c.7504G>A	NP_001341830.1:p.Val2502Ile
NM_001354902.2:c.7408G>A	NP_001341831.1:p.Val2470Ile
NM_001354903.2:c.7378G>A	NP_001341832.1:p.Val2460Ile
NM_001354904.2:c.7303G>A	NP_001341833.1:p.Val2435Ile
NM_001354905.2:c.7201G>A	NP_001341834.1:p.Val2401Ile
NM_001354906.2:c.6832G>A	NP_001341835.1:p.Val2278Ile