Canonical Allele Identifier: CA16038424

Gene: APC

Linked Data

• ClinVar Variation Id: 75619
• ClinVar RCV Id: RCV000662519 ; RCV003650363
• dbSNP Id: rs267600320
• gnomAD v2: 5-112179156-C-T
• gnomAD v4: 5-112843459-C-T
• COSMIC: COSM327766
• MyVariant Identifiers: chr5:g.112179156C>T (hg19) ; chr5:g.112843459C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843459C>T , CM000667.2:g.112843459C>T	GRCh38
NC_000005.9:g.112179156C>T , CM000667.1:g.112179156C>T	GRCh37
NC_000005.8:g.112207055C>T	NCBI36
NG_008481.4:g.155939C>T , LRG_130:g.155939C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7919C>T	ENSP00000473355.2:p.Pro2640Leu
ENST00000505350.2:c.*7871C>T	ENSP00000481752.1:n.*7871C>T
ENST00000507379.6:c.7811C>T	ENSP00000423224.2:p.Pro2604Leu
ENST00000509732.6:c.7865C>T	ENSP00000426541.2:p.Pro2622Leu
ENST00000512211.7:c.7865C>T	ENSP00000423828.3:p.Pro2622Leu
ENST00000257430.9:c.7865C>T MANE Select	ENSP00000257430.4:p.Pro2622Leu
ENST00000257430.8:c.7865C>T	ENSP00000257430.4:p.Pro2622Leu
ENST00000508376.6:c.7865C>T	ENSP00000427089.2:p.Pro2622Leu
ENST00000520401.1:c.231-13190C>T
NM_000038.5:c.7865C>T	NP_000029.2:p.Pro2622Leu
NM_001127510.2:c.7865C>T	NP_001120982.1:p.Pro2622Leu
NM_001127511.2:c.7811C>T	NP_001120983.2:p.Pro2604Leu
NM_001354895.1:c.7865C>T	NP_001341824.1:p.Pro2622Leu
NM_001354896.1:c.7919C>T	NP_001341825.1:p.Pro2640Leu
NM_001354897.1:c.7895C>T	NP_001341826.1:p.Pro2632Leu
NM_001354898.1:c.7790C>T	NP_001341827.1:p.Pro2597Leu
NM_001354899.1:c.7781C>T	NP_001341828.1:p.Pro2594Leu
NM_001354900.1:c.7742C>T	NP_001341829.1:p.Pro2581Leu
NM_001354901.1:c.7688C>T	NP_001341830.1:p.Pro2563Leu
NM_001354902.1:c.7592C>T	NP_001341831.1:p.Pro2531Leu
NM_001354903.1:c.7562C>T	NP_001341832.1:p.Pro2521Leu
NM_001354904.1:c.7487C>T	NP_001341833.1:p.Pro2496Leu
NM_001354905.1:c.7385C>T	NP_001341834.1:p.Pro2462Leu
NM_001354906.1:c.7016C>T	NP_001341835.1:p.Pro2339Leu
NM_000038.6:c.7865C>T MANE Select	NP_000029.2:p.Pro2622Leu
NM_001127510.3:c.7865C>T	NP_001120982.1:p.Pro2622Leu
NM_001127511.3:c.7811C>T	NP_001120983.2:p.Pro2604Leu
NM_001354895.2:c.7865C>T	NP_001341824.1:p.Pro2622Leu
NM_001354896.2:c.7919C>T	NP_001341825.1:p.Pro2640Leu
NM_001354897.2:c.7895C>T	NP_001341826.1:p.Pro2632Leu
NM_001354898.2:c.7790C>T	NP_001341827.1:p.Pro2597Leu
NM_001354899.2:c.7781C>T	NP_001341828.1:p.Pro2594Leu
NM_001354900.2:c.7742C>T	NP_001341829.1:p.Pro2581Leu
NM_001354901.2:c.7688C>T	NP_001341830.1:p.Pro2563Leu
NM_001354902.2:c.7592C>T	NP_001341831.1:p.Pro2531Leu
NM_001354903.2:c.7562C>T	NP_001341832.1:p.Pro2521Leu
NM_001354904.2:c.7487C>T	NP_001341833.1:p.Pro2496Leu
NM_001354905.2:c.7385C>T	NP_001341834.1:p.Pro2462Leu
NM_001354906.2:c.7016C>T	NP_001341835.1:p.Pro2339Leu