Canonical Allele Identifier: CA16036647

Gene: APC

Linked Data

• ClinVar Variation Id: 470074
• ClinVar RCV Id: RCV002307541 ; RCV002526319
• dbSNP Id: rs766086022
• gnomAD v4: 5-112842620-A-T
• MyVariant Identifiers: chr5:g.112178317A>T (hg19) ; chr5:g.112842620A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842620A>T , CM000667.2:g.112842620A>T	GRCh38
NC_000005.9:g.112178317A>T , CM000667.1:g.112178317A>T	GRCh37
NC_000005.8:g.112206216A>T	NCBI36
NG_008481.4:g.155100A>T , LRG_130:g.155100A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.7080A>T	ENSP00000473355.2:p.Leu2360Phe
ENST00000505350.2:c.*7032A>T	ENSP00000481752.1:n.*7032A>T
ENST00000507379.6:c.6972A>T	ENSP00000423224.2:p.Leu2324Phe
ENST00000509732.6:c.7026A>T	ENSP00000426541.2:p.Leu2342Phe
ENST00000512211.7:c.7026A>T	ENSP00000423828.3:p.Leu2342Phe
ENST00000257430.9:c.7026A>T MANE Select	ENSP00000257430.4:p.Leu2342Phe
ENST00000257430.8:c.7026A>T	ENSP00000257430.4:p.Leu2342Phe
ENST00000508376.6:c.7026A>T	ENSP00000427089.2:p.Leu2342Phe
ENST00000508624.5:c.*6348A>T	ENSP00000424265.1:n.*6348A>T
ENST00000520401.1:c.230+13648A>T
NM_000038.5:c.7026A>T	NP_000029.2:p.Leu2342Phe
NM_001127510.2:c.7026A>T	NP_001120982.1:p.Leu2342Phe
NM_001127511.2:c.6972A>T	NP_001120983.2:p.Leu2324Phe
NM_001354895.1:c.7026A>T	NP_001341824.1:p.Leu2342Phe
NM_001354896.1:c.7080A>T	NP_001341825.1:p.Leu2360Phe
NM_001354897.1:c.7056A>T	NP_001341826.1:p.Leu2352Phe
NM_001354898.1:c.6951A>T	NP_001341827.1:p.Leu2317Phe
NM_001354899.1:c.6942A>T	NP_001341828.1:p.Leu2314Phe
NM_001354900.1:c.6903A>T	NP_001341829.1:p.Leu2301Phe
NM_001354901.1:c.6849A>T	NP_001341830.1:p.Leu2283Phe
NM_001354902.1:c.6753A>T	NP_001341831.1:p.Leu2251Phe
NM_001354903.1:c.6723A>T	NP_001341832.1:p.Leu2241Phe
NM_001354904.1:c.6648A>T	NP_001341833.1:p.Leu2216Phe
NM_001354905.1:c.6546A>T	NP_001341834.1:p.Leu2182Phe
NM_001354906.1:c.6177A>T	NP_001341835.1:p.Leu2059Phe
NM_000038.6:c.7026A>T MANE Select	NP_000029.2:p.Leu2342Phe
NM_001127510.3:c.7026A>T	NP_001120982.1:p.Leu2342Phe
NM_001127511.3:c.6972A>T	NP_001120983.2:p.Leu2324Phe
NM_001354895.2:c.7026A>T	NP_001341824.1:p.Leu2342Phe
NM_001354896.2:c.7080A>T	NP_001341825.1:p.Leu2360Phe
NM_001354897.2:c.7056A>T	NP_001341826.1:p.Leu2352Phe
NM_001354898.2:c.6951A>T	NP_001341827.1:p.Leu2317Phe
NM_001354899.2:c.6942A>T	NP_001341828.1:p.Leu2314Phe
NM_001354900.2:c.6903A>T	NP_001341829.1:p.Leu2301Phe
NM_001354901.2:c.6849A>T	NP_001341830.1:p.Leu2283Phe
NM_001354902.2:c.6753A>T	NP_001341831.1:p.Leu2251Phe
NM_001354903.2:c.6723A>T	NP_001341832.1:p.Leu2241Phe
NM_001354904.2:c.6648A>T	NP_001341833.1:p.Leu2216Phe
NM_001354905.2:c.6546A>T	NP_001341834.1:p.Leu2182Phe
NM_001354906.2:c.6177A>T	NP_001341835.1:p.Leu2059Phe