Canonical Allele Identifier: CA16037715

Gene: APC

Linked Data

• ClinVar Variation Id: 2793266
• ClinVar RCV Id: RCV003745817
• dbSNP Id: rs2149989152
• MyVariant Identifiers: chr5:g.112178828C>G (hg19) ; chr5:g.112843131C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843131C>G , CM000667.2:g.112843131C>G	GRCh38
NC_000005.9:g.112178828C>G , CM000667.1:g.112178828C>G	GRCh37
NC_000005.8:g.112206727C>G	NCBI36
NG_008481.4:g.155611C>G , LRG_130:g.155611C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7591C>G	ENSP00000473355.2:p.Pro2531Ala
ENST00000505350.2:c.*7543C>G	ENSP00000481752.1:n.*7543C>G
ENST00000507379.6:c.7483C>G	ENSP00000423224.2:p.Pro2495Ala
ENST00000509732.6:c.7537C>G	ENSP00000426541.2:p.Pro2513Ala
ENST00000512211.7:c.7537C>G	ENSP00000423828.3:p.Pro2513Ala
ENST00000257430.9:c.7537C>G MANE Select	ENSP00000257430.4:p.Pro2513Ala
ENST00000257430.8:c.7537C>G	ENSP00000257430.4:p.Pro2513Ala
ENST00000508376.6:c.7537C>G	ENSP00000427089.2:p.Pro2513Ala
ENST00000520401.1:c.231-13518C>G
NM_000038.5:c.7537C>G	NP_000029.2:p.Pro2513Ala
NM_001127510.2:c.7537C>G	NP_001120982.1:p.Pro2513Ala
NM_001127511.2:c.7483C>G	NP_001120983.2:p.Pro2495Ala
NM_001354895.1:c.7537C>G	NP_001341824.1:p.Pro2513Ala
NM_001354896.1:c.7591C>G	NP_001341825.1:p.Pro2531Ala
NM_001354897.1:c.7567C>G	NP_001341826.1:p.Pro2523Ala
NM_001354898.1:c.7462C>G	NP_001341827.1:p.Pro2488Ala
NM_001354899.1:c.7453C>G	NP_001341828.1:p.Pro2485Ala
NM_001354900.1:c.7414C>G	NP_001341829.1:p.Pro2472Ala
NM_001354901.1:c.7360C>G	NP_001341830.1:p.Pro2454Ala
NM_001354902.1:c.7264C>G	NP_001341831.1:p.Pro2422Ala
NM_001354903.1:c.7234C>G	NP_001341832.1:p.Pro2412Ala
NM_001354904.1:c.7159C>G	NP_001341833.1:p.Pro2387Ala
NM_001354905.1:c.7057C>G	NP_001341834.1:p.Pro2353Ala
NM_001354906.1:c.6688C>G	NP_001341835.1:p.Pro2230Ala
NM_000038.6:c.7537C>G MANE Select	NP_000029.2:p.Pro2513Ala
NM_001127510.3:c.7537C>G	NP_001120982.1:p.Pro2513Ala
NM_001127511.3:c.7483C>G	NP_001120983.2:p.Pro2495Ala
NM_001354895.2:c.7537C>G	NP_001341824.1:p.Pro2513Ala
NM_001354896.2:c.7591C>G	NP_001341825.1:p.Pro2531Ala
NM_001354897.2:c.7567C>G	NP_001341826.1:p.Pro2523Ala
NM_001354898.2:c.7462C>G	NP_001341827.1:p.Pro2488Ala
NM_001354899.2:c.7453C>G	NP_001341828.1:p.Pro2485Ala
NM_001354900.2:c.7414C>G	NP_001341829.1:p.Pro2472Ala
NM_001354901.2:c.7360C>G	NP_001341830.1:p.Pro2454Ala
NM_001354902.2:c.7264C>G	NP_001341831.1:p.Pro2422Ala
NM_001354903.2:c.7234C>G	NP_001341832.1:p.Pro2412Ala
NM_001354904.2:c.7159C>G	NP_001341833.1:p.Pro2387Ala
NM_001354905.2:c.7057C>G	NP_001341834.1:p.Pro2353Ala
NM_001354906.2:c.6688C>G	NP_001341835.1:p.Pro2230Ala