Canonical Allele Identifier: CA10578415

Gene: APC

Linked Data

• ClinVar Variation Id: 233824
• ClinVar RCV Id: RCV000217699 ; RCV002229329 ; RCV003765441
• dbSNP Id: rs876660665
• MyVariant Identifiers: chr5:g.112177235A>T (hg19) ; chr5:g.112841538A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841538A>T , CM000667.2:g.112841538A>T	GRCh38
NC_000005.9:g.112177235A>T , CM000667.1:g.112177235A>T	GRCh37
NC_000005.8:g.112205134A>T	NCBI36
NG_008481.4:g.154018A>T , LRG_130:g.154018A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5998A>T	ENSP00000473355.2:p.Lys2000Ter
ENST00000505350.2:c.*5950A>T	ENSP00000481752.1:n.*5950A>T
ENST00000507379.6:c.5890A>T	ENSP00000423224.2:p.Lys1964Ter
ENST00000509732.6:c.5944A>T	ENSP00000426541.2:p.Lys1982Ter
ENST00000512211.7:c.5944A>T	ENSP00000423828.3:p.Lys1982Ter
ENST00000257430.9:c.5944A>T MANE Select	ENSP00000257430.4:p.Lys1982Ter
ENST00000257430.8:c.5944A>T	ENSP00000257430.4:p.Lys1982Ter
ENST00000508376.6:c.5944A>T	ENSP00000427089.2:p.Lys1982Ter
ENST00000508624.5:c.*5266A>T	ENSP00000424265.1:n.*5266A>T
ENST00000520401.1:c.230+12566A>T
NM_000038.5:c.5944A>T	NP_000029.2:p.Lys1982Ter
NM_001127510.2:c.5944A>T	NP_001120982.1:p.Lys1982Ter
NM_001127511.2:c.5890A>T	NP_001120983.2:p.Lys1964Ter
NM_001354895.1:c.5944A>T	NP_001341824.1:p.Lys1982Ter
NM_001354896.1:c.5998A>T	NP_001341825.1:p.Lys2000Ter
NM_001354897.1:c.5974A>T	NP_001341826.1:p.Lys1992Ter
NM_001354898.1:c.5869A>T	NP_001341827.1:p.Lys1957Ter
NM_001354899.1:c.5860A>T	NP_001341828.1:p.Lys1954Ter
NM_001354900.1:c.5821A>T	NP_001341829.1:p.Lys1941Ter
NM_001354901.1:c.5767A>T	NP_001341830.1:p.Lys1923Ter
NM_001354902.1:c.5671A>T	NP_001341831.1:p.Lys1891Ter
NM_001354903.1:c.5641A>T	NP_001341832.1:p.Lys1881Ter
NM_001354904.1:c.5566A>T	NP_001341833.1:p.Lys1856Ter
NM_001354905.1:c.5464A>T	NP_001341834.1:p.Lys1822Ter
NM_001354906.1:c.5095A>T	NP_001341835.1:p.Lys1699Ter
NM_000038.6:c.5944A>T MANE Select	NP_000029.2:p.Lys1982Ter
NM_001127510.3:c.5944A>T	NP_001120982.1:p.Lys1982Ter
NM_001127511.3:c.5890A>T	NP_001120983.2:p.Lys1964Ter
NM_001354895.2:c.5944A>T	NP_001341824.1:p.Lys1982Ter
NM_001354896.2:c.5998A>T	NP_001341825.1:p.Lys2000Ter
NM_001354897.2:c.5974A>T	NP_001341826.1:p.Lys1992Ter
NM_001354898.2:c.5869A>T	NP_001341827.1:p.Lys1957Ter
NM_001354899.2:c.5860A>T	NP_001341828.1:p.Lys1954Ter
NM_001354900.2:c.5821A>T	NP_001341829.1:p.Lys1941Ter
NM_001354901.2:c.5767A>T	NP_001341830.1:p.Lys1923Ter
NM_001354902.2:c.5671A>T	NP_001341831.1:p.Lys1891Ter
NM_001354903.2:c.5641A>T	NP_001341832.1:p.Lys1881Ter
NM_001354904.2:c.5566A>T	NP_001341833.1:p.Lys1856Ter
NM_001354905.2:c.5464A>T	NP_001341834.1:p.Lys1822Ter
NM_001354906.2:c.5095A>T	NP_001341835.1:p.Lys1699Ter