Canonical Allele Identifier: CA006331

Gene: APC

Linked Data

• ClinVar Variation Id: 127279
• ClinVar RCV Id: RCV000115071
• dbSNP Id: rs75117039
• MyVariant Identifiers: chr5:g.112170816A>T (hg19) ; chr5:g.112835119A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835119A>T , CM000667.2:g.112835119A>T	GRCh38
NC_000005.9:g.112170816A>T , CM000667.1:g.112170816A>T	GRCh37
NC_000005.8:g.112198715A>T	NCBI36
NG_008481.4:g.147599A>T , LRG_130:g.147599A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1577A>T	ENSP00000484935.2:n.1577A>T
ENST00000504915.3:c.1966A>T	ENSP00000473355.2:p.Ile656Leu
ENST00000505350.2:c.*1918A>T	ENSP00000481752.1:n.*1918A>T
ENST00000507379.6:c.1858A>T	ENSP00000423224.2:p.Ile620Leu
ENST00000509732.6:c.1912A>T	ENSP00000426541.2:p.Ile638Leu
ENST00000512211.7:c.1912A>T	ENSP00000423828.3:p.Ile638Leu
ENST00000257430.9:c.1912A>T MANE Select	ENSP00000257430.4:p.Ile638Leu
ENST00000257430.8:c.1912A>T	ENSP00000257430.4:p.Ile638Leu
ENST00000502371.2:c.265A>T
ENST00000504915.2:c.601A>T	ENSP00000473355.1:p.Ile201Leu
ENST00000507379.5:c.1858A>T	ENSP00000423224.1:p.Ile620Leu
ENST00000508376.6:c.1912A>T	ENSP00000427089.2:p.Ile638Leu
ENST00000508624.5:c.*1234A>T	ENSP00000424265.1:n.*1234A>T
ENST00000512211.6:c.1912A>T	ENSP00000423828.2:p.Ile638Leu
ENST00000520401.1:c.230+6147A>T
NM_000038.5:c.1912A>T	NP_000029.2:p.Ile638Leu
NM_001127510.2:c.1912A>T	NP_001120982.1:p.Ile638Leu
NM_001127511.2:c.1858A>T	NP_001120983.2:p.Ile620Leu
NM_001354895.1:c.1912A>T	NP_001341824.1:p.Ile638Leu
NM_001354896.1:c.1966A>T	NP_001341825.1:p.Ile656Leu
NM_001354897.1:c.1942A>T	NP_001341826.1:p.Ile648Leu
NM_001354898.1:c.1837A>T	NP_001341827.1:p.Ile613Leu
NM_001354899.1:c.1828A>T	NP_001341828.1:p.Ile610Leu
NM_001354900.1:c.1789A>T	NP_001341829.1:p.Ile597Leu
NM_001354901.1:c.1735A>T	NP_001341830.1:p.Ile579Leu
NM_001354902.1:c.1639A>T	NP_001341831.1:p.Ile547Leu
NM_001354903.1:c.1609A>T	NP_001341832.1:p.Ile537Leu
NM_001354904.1:c.1534A>T	NP_001341833.1:p.Ile512Leu
NM_001354905.1:c.1432A>T	NP_001341834.1:p.Ile478Leu
NM_001354906.1:c.1063A>T	NP_001341835.1:p.Ile355Leu
NM_000038.6:c.1912A>T MANE Select	NP_000029.2:p.Ile638Leu
NM_001127510.3:c.1912A>T	NP_001120982.1:p.Ile638Leu
NM_001127511.3:c.1858A>T	NP_001120983.2:p.Ile620Leu
NM_001354895.2:c.1912A>T	NP_001341824.1:p.Ile638Leu
NM_001354896.2:c.1966A>T	NP_001341825.1:p.Ile656Leu
NM_001354897.2:c.1942A>T	NP_001341826.1:p.Ile648Leu
NM_001354898.2:c.1837A>T	NP_001341827.1:p.Ile613Leu
NM_001354899.2:c.1828A>T	NP_001341828.1:p.Ile610Leu
NM_001354900.2:c.1789A>T	NP_001341829.1:p.Ile597Leu
NM_001354901.2:c.1735A>T	NP_001341830.1:p.Ile579Leu
NM_001354902.2:c.1639A>T	NP_001341831.1:p.Ile547Leu
NM_001354903.2:c.1609A>T	NP_001341832.1:p.Ile537Leu
NM_001354904.2:c.1534A>T	NP_001341833.1:p.Ile512Leu
NM_001354905.2:c.1432A>T	NP_001341834.1:p.Ile478Leu
NM_001354906.2:c.1063A>T	NP_001341835.1:p.Ile355Leu