Canonical Allele Identifier: CA16036808

Gene: APC

Linked Data

• ClinVar Variation Id: 659672
• ClinVar RCV Id: RCV003653389 ; RCV002286789 ; RCV002363135
• dbSNP Id: rs1580678573
• MyVariant Identifiers: chr5:g.112178397C>T (hg19) ; chr5:g.112842700C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842700C>T , CM000667.2:g.112842700C>T	GRCh38
NC_000005.9:g.112178397C>T , CM000667.1:g.112178397C>T	GRCh37
NC_000005.8:g.112206296C>T	NCBI36
NG_008481.4:g.155180C>T , LRG_130:g.155180C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7160C>T	ENSP00000473355.2:p.Pro2387Leu
ENST00000505350.2:c.*7112C>T	ENSP00000481752.1:n.*7112C>T
ENST00000507379.6:c.7052C>T	ENSP00000423224.2:p.Pro2351Leu
ENST00000509732.6:c.7106C>T	ENSP00000426541.2:p.Pro2369Leu
ENST00000512211.7:c.7106C>T	ENSP00000423828.3:p.Pro2369Leu
ENST00000257430.9:c.7106C>T MANE Select	ENSP00000257430.4:p.Pro2369Leu
ENST00000257430.8:c.7106C>T	ENSP00000257430.4:p.Pro2369Leu
ENST00000508376.6:c.7106C>T	ENSP00000427089.2:p.Pro2369Leu
ENST00000508624.5:c.*6428C>T	ENSP00000424265.1:n.*6428C>T
ENST00000520401.1:c.230+13728C>T
NM_000038.5:c.7106C>T	NP_000029.2:p.Pro2369Leu
NM_001127510.2:c.7106C>T	NP_001120982.1:p.Pro2369Leu
NM_001127511.2:c.7052C>T	NP_001120983.2:p.Pro2351Leu
NM_001354895.1:c.7106C>T	NP_001341824.1:p.Pro2369Leu
NM_001354896.1:c.7160C>T	NP_001341825.1:p.Pro2387Leu
NM_001354897.1:c.7136C>T	NP_001341826.1:p.Pro2379Leu
NM_001354898.1:c.7031C>T	NP_001341827.1:p.Pro2344Leu
NM_001354899.1:c.7022C>T	NP_001341828.1:p.Pro2341Leu
NM_001354900.1:c.6983C>T	NP_001341829.1:p.Pro2328Leu
NM_001354901.1:c.6929C>T	NP_001341830.1:p.Pro2310Leu
NM_001354902.1:c.6833C>T	NP_001341831.1:p.Pro2278Leu
NM_001354903.1:c.6803C>T	NP_001341832.1:p.Pro2268Leu
NM_001354904.1:c.6728C>T	NP_001341833.1:p.Pro2243Leu
NM_001354905.1:c.6626C>T	NP_001341834.1:p.Pro2209Leu
NM_001354906.1:c.6257C>T	NP_001341835.1:p.Pro2086Leu
NM_000038.6:c.7106C>T MANE Select	NP_000029.2:p.Pro2369Leu
NM_001127510.3:c.7106C>T	NP_001120982.1:p.Pro2369Leu
NM_001127511.3:c.7052C>T	NP_001120983.2:p.Pro2351Leu
NM_001354895.2:c.7106C>T	NP_001341824.1:p.Pro2369Leu
NM_001354896.2:c.7160C>T	NP_001341825.1:p.Pro2387Leu
NM_001354897.2:c.7136C>T	NP_001341826.1:p.Pro2379Leu
NM_001354898.2:c.7031C>T	NP_001341827.1:p.Pro2344Leu
NM_001354899.2:c.7022C>T	NP_001341828.1:p.Pro2341Leu
NM_001354900.2:c.6983C>T	NP_001341829.1:p.Pro2328Leu
NM_001354901.2:c.6929C>T	NP_001341830.1:p.Pro2310Leu
NM_001354902.2:c.6833C>T	NP_001341831.1:p.Pro2278Leu
NM_001354903.2:c.6803C>T	NP_001341832.1:p.Pro2268Leu
NM_001354904.2:c.6728C>T	NP_001341833.1:p.Pro2243Leu
NM_001354905.2:c.6626C>T	NP_001341834.1:p.Pro2209Leu
NM_001354906.2:c.6257C>T	NP_001341835.1:p.Pro2086Leu