Canonical Allele Identifier: CA16038214

Gene: APC

Linked Data

• ClinVar Variation Id: 628605
• ClinVar RCV Id: RCV000773146
• dbSNP Id: rs1114167572
• gnomAD v3: 5-112843365-C-T
• gnomAD v4: 5-112843365-C-T
• MyVariant Identifiers: chr5:g.112179062C>T (hg19) ; chr5:g.112843365C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843365C>T , CM000667.2:g.112843365C>T	GRCh38
NC_000005.9:g.112179062C>T , CM000667.1:g.112179062C>T	GRCh37
NC_000005.8:g.112206961C>T	NCBI36
NG_008481.4:g.155845C>T , LRG_130:g.155845C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7825C>T	ENSP00000473355.2:p.His2609Tyr
ENST00000505350.2:c.*7777C>T	ENSP00000481752.1:n.*7777C>T
ENST00000507379.6:c.7717C>T	ENSP00000423224.2:p.His2573Tyr
ENST00000509732.6:c.7771C>T	ENSP00000426541.2:p.His2591Tyr
ENST00000512211.7:c.7771C>T	ENSP00000423828.3:p.His2591Tyr
ENST00000257430.9:c.7771C>T MANE Select	ENSP00000257430.4:p.His2591Tyr
ENST00000257430.8:c.7771C>T	ENSP00000257430.4:p.His2591Tyr
ENST00000508376.6:c.7771C>T	ENSP00000427089.2:p.His2591Tyr
ENST00000520401.1:c.231-13284C>T
NM_000038.5:c.7771C>T	NP_000029.2:p.His2591Tyr
NM_001127510.2:c.7771C>T	NP_001120982.1:p.His2591Tyr
NM_001127511.2:c.7717C>T	NP_001120983.2:p.His2573Tyr
NM_001354895.1:c.7771C>T	NP_001341824.1:p.His2591Tyr
NM_001354896.1:c.7825C>T	NP_001341825.1:p.His2609Tyr
NM_001354897.1:c.7801C>T	NP_001341826.1:p.His2601Tyr
NM_001354898.1:c.7696C>T	NP_001341827.1:p.His2566Tyr
NM_001354899.1:c.7687C>T	NP_001341828.1:p.His2563Tyr
NM_001354900.1:c.7648C>T	NP_001341829.1:p.His2550Tyr
NM_001354901.1:c.7594C>T	NP_001341830.1:p.His2532Tyr
NM_001354902.1:c.7498C>T	NP_001341831.1:p.His2500Tyr
NM_001354903.1:c.7468C>T	NP_001341832.1:p.His2490Tyr
NM_001354904.1:c.7393C>T	NP_001341833.1:p.His2465Tyr
NM_001354905.1:c.7291C>T	NP_001341834.1:p.His2431Tyr
NM_001354906.1:c.6922C>T	NP_001341835.1:p.His2308Tyr
NM_000038.6:c.7771C>T MANE Select	NP_000029.2:p.His2591Tyr
NM_001127510.3:c.7771C>T	NP_001120982.1:p.His2591Tyr
NM_001127511.3:c.7717C>T	NP_001120983.2:p.His2573Tyr
NM_001354895.2:c.7771C>T	NP_001341824.1:p.His2591Tyr
NM_001354896.2:c.7825C>T	NP_001341825.1:p.His2609Tyr
NM_001354897.2:c.7801C>T	NP_001341826.1:p.His2601Tyr
NM_001354898.2:c.7696C>T	NP_001341827.1:p.His2566Tyr
NM_001354899.2:c.7687C>T	NP_001341828.1:p.His2563Tyr
NM_001354900.2:c.7648C>T	NP_001341829.1:p.His2550Tyr
NM_001354901.2:c.7594C>T	NP_001341830.1:p.His2532Tyr
NM_001354902.2:c.7498C>T	NP_001341831.1:p.His2500Tyr
NM_001354903.2:c.7468C>T	NP_001341832.1:p.His2490Tyr
NM_001354904.2:c.7393C>T	NP_001341833.1:p.His2465Tyr
NM_001354905.2:c.7291C>T	NP_001341834.1:p.His2431Tyr
NM_001354906.2:c.6922C>T	NP_001341835.1:p.His2308Tyr