Canonical Allele Identifier: CA16039001

Gene: APC

Linked Data

• ClinVar Variation Id: 647323
• ClinVar RCV Id: RCV001027211
• dbSNP Id: rs1269106823
• gnomAD v2: 5-112179426-C-T
• gnomAD v4: 5-112843729-C-T
• MyVariant Identifiers: chr5:g.112179426C>T (hg19) ; chr5:g.112843729C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843729C>T , CM000667.2:g.112843729C>T	GRCh38
NC_000005.9:g.112179426C>T , CM000667.1:g.112179426C>T	GRCh37
NC_000005.8:g.112207325C>T	NCBI36
NG_008481.4:g.156209C>T , LRG_130:g.156209C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.8189C>T	ENSP00000473355.2:p.Pro2730Leu
ENST00000505350.2:c.*8141C>T	ENSP00000481752.1:n.*8141C>T
ENST00000507379.6:c.8081C>T	ENSP00000423224.2:p.Pro2694Leu
ENST00000509732.6:c.8135C>T	ENSP00000426541.2:p.Pro2712Leu
ENST00000512211.7:c.8135C>T	ENSP00000423828.3:p.Pro2712Leu
ENST00000257430.9:c.8135C>T MANE Select	ENSP00000257430.4:p.Pro2712Leu
ENST00000257430.8:c.8135C>T	ENSP00000257430.4:p.Pro2712Leu
ENST00000508376.6:c.8135C>T	ENSP00000427089.2:p.Pro2712Leu
ENST00000520401.1:c.231-12920C>T
NM_000038.5:c.8135C>T	NP_000029.2:p.Pro2712Leu
NM_001127510.2:c.8135C>T	NP_001120982.1:p.Pro2712Leu
NM_001127511.2:c.8081C>T	NP_001120983.2:p.Pro2694Leu
NM_001354895.1:c.8135C>T	NP_001341824.1:p.Pro2712Leu
NM_001354896.1:c.8189C>T	NP_001341825.1:p.Pro2730Leu
NM_001354897.1:c.8165C>T	NP_001341826.1:p.Pro2722Leu
NM_001354898.1:c.8060C>T	NP_001341827.1:p.Pro2687Leu
NM_001354899.1:c.8051C>T	NP_001341828.1:p.Pro2684Leu
NM_001354900.1:c.8012C>T	NP_001341829.1:p.Pro2671Leu
NM_001354901.1:c.7958C>T	NP_001341830.1:p.Pro2653Leu
NM_001354902.1:c.7862C>T	NP_001341831.1:p.Pro2621Leu
NM_001354903.1:c.7832C>T	NP_001341832.1:p.Pro2611Leu
NM_001354904.1:c.7757C>T	NP_001341833.1:p.Pro2586Leu
NM_001354905.1:c.7655C>T	NP_001341834.1:p.Pro2552Leu
NM_001354906.1:c.7286C>T	NP_001341835.1:p.Pro2429Leu
NM_000038.6:c.8135C>T MANE Select	NP_000029.2:p.Pro2712Leu
NM_001127510.3:c.8135C>T	NP_001120982.1:p.Pro2712Leu
NM_001127511.3:c.8081C>T	NP_001120983.2:p.Pro2694Leu
NM_001354895.2:c.8135C>T	NP_001341824.1:p.Pro2712Leu
NM_001354896.2:c.8189C>T	NP_001341825.1:p.Pro2730Leu
NM_001354897.2:c.8165C>T	NP_001341826.1:p.Pro2722Leu
NM_001354898.2:c.8060C>T	NP_001341827.1:p.Pro2687Leu
NM_001354899.2:c.8051C>T	NP_001341828.1:p.Pro2684Leu
NM_001354900.2:c.8012C>T	NP_001341829.1:p.Pro2671Leu
NM_001354901.2:c.7958C>T	NP_001341830.1:p.Pro2653Leu
NM_001354902.2:c.7862C>T	NP_001341831.1:p.Pro2621Leu
NM_001354903.2:c.7832C>T	NP_001341832.1:p.Pro2611Leu
NM_001354904.2:c.7757C>T	NP_001341833.1:p.Pro2586Leu
NM_001354905.2:c.7655C>T	NP_001341834.1:p.Pro2552Leu
NM_001354906.2:c.7286C>T	NP_001341835.1:p.Pro2429Leu