Canonical Allele Identifier: CA16033841

Gene: APC

Linked Data

• ClinVar Variation Id: 963039
• ClinVar RCV Id: RCV002348801 ; RCV003652069
• dbSNP Id: rs876658338
• MyVariant Identifiers: chr5:g.112177005A>T (hg19) ; chr5:g.112841308A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841308A>T , CM000667.2:g.112841308A>T	GRCh38
NC_000005.9:g.112177005A>T , CM000667.1:g.112177005A>T	GRCh37
NC_000005.8:g.112204904A>T	NCBI36
NG_008481.4:g.153788A>T , LRG_130:g.153788A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5768A>T	ENSP00000473355.2:p.Gln1923Leu
ENST00000505350.2:c.*5720A>T	ENSP00000481752.1:n.*5720A>T
ENST00000507379.6:c.5660A>T	ENSP00000423224.2:p.Gln1887Leu
ENST00000509732.6:c.5714A>T	ENSP00000426541.2:p.Gln1905Leu
ENST00000512211.7:c.5714A>T	ENSP00000423828.3:p.Gln1905Leu
ENST00000257430.9:c.5714A>T MANE Select	ENSP00000257430.4:p.Gln1905Leu
ENST00000257430.8:c.5714A>T	ENSP00000257430.4:p.Gln1905Leu
ENST00000508376.6:c.5714A>T	ENSP00000427089.2:p.Gln1905Leu
ENST00000508624.5:c.*5036A>T	ENSP00000424265.1:n.*5036A>T
ENST00000520401.1:c.230+12336A>T
NM_000038.5:c.5714A>T	NP_000029.2:p.Gln1905Leu
NM_001127510.2:c.5714A>T	NP_001120982.1:p.Gln1905Leu
NM_001127511.2:c.5660A>T	NP_001120983.2:p.Gln1887Leu
NM_001354895.1:c.5714A>T	NP_001341824.1:p.Gln1905Leu
NM_001354896.1:c.5768A>T	NP_001341825.1:p.Gln1923Leu
NM_001354897.1:c.5744A>T	NP_001341826.1:p.Gln1915Leu
NM_001354898.1:c.5639A>T	NP_001341827.1:p.Gln1880Leu
NM_001354899.1:c.5630A>T	NP_001341828.1:p.Gln1877Leu
NM_001354900.1:c.5591A>T	NP_001341829.1:p.Gln1864Leu
NM_001354901.1:c.5537A>T	NP_001341830.1:p.Gln1846Leu
NM_001354902.1:c.5441A>T	NP_001341831.1:p.Gln1814Leu
NM_001354903.1:c.5411A>T	NP_001341832.1:p.Gln1804Leu
NM_001354904.1:c.5336A>T	NP_001341833.1:p.Gln1779Leu
NM_001354905.1:c.5234A>T	NP_001341834.1:p.Gln1745Leu
NM_001354906.1:c.4865A>T	NP_001341835.1:p.Gln1622Leu
NM_000038.6:c.5714A>T MANE Select	NP_000029.2:p.Gln1905Leu
NM_001127510.3:c.5714A>T	NP_001120982.1:p.Gln1905Leu
NM_001127511.3:c.5660A>T	NP_001120983.2:p.Gln1887Leu
NM_001354895.2:c.5714A>T	NP_001341824.1:p.Gln1905Leu
NM_001354896.2:c.5768A>T	NP_001341825.1:p.Gln1923Leu
NM_001354897.2:c.5744A>T	NP_001341826.1:p.Gln1915Leu
NM_001354898.2:c.5639A>T	NP_001341827.1:p.Gln1880Leu
NM_001354899.2:c.5630A>T	NP_001341828.1:p.Gln1877Leu
NM_001354900.2:c.5591A>T	NP_001341829.1:p.Gln1864Leu
NM_001354901.2:c.5537A>T	NP_001341830.1:p.Gln1846Leu
NM_001354902.2:c.5441A>T	NP_001341831.1:p.Gln1814Leu
NM_001354903.2:c.5411A>T	NP_001341832.1:p.Gln1804Leu
NM_001354904.2:c.5336A>T	NP_001341833.1:p.Gln1779Leu
NM_001354905.2:c.5234A>T	NP_001341834.1:p.Gln1745Leu
NM_001354906.2:c.4865A>T	NP_001341835.1:p.Gln1622Leu