Canonical Allele Identifier: CA16036461

Gene: APC

Linked Data

• dbSNP Id: rs1028675068
• COSMIC: COSM6101405
• MyVariant Identifiers: chr5:g.112178228G>T (hg19) ; chr5:g.112842531G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842531G>T , CM000667.2:g.112842531G>T	GRCh38
NC_000005.9:g.112178228G>T , CM000667.1:g.112178228G>T	GRCh37
NC_000005.8:g.112206127G>T	NCBI36
NG_008481.4:g.155011G>T , LRG_130:g.155011G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.6991G>T	ENSP00000473355.2:p.Ala2331Ser
ENST00000505350.2:c.*6943G>T	ENSP00000481752.1:n.*6943G>T
ENST00000507379.6:c.6883G>T	ENSP00000423224.2:p.Ala2295Ser
ENST00000509732.6:c.6937G>T	ENSP00000426541.2:p.Ala2313Ser
ENST00000512211.7:c.6937G>T	ENSP00000423828.3:p.Ala2313Ser
ENST00000257430.9:c.6937G>T MANE Select	ENSP00000257430.4:p.Ala2313Ser
ENST00000257430.8:c.6937G>T	ENSP00000257430.4:p.Ala2313Ser
ENST00000508376.6:c.6937G>T	ENSP00000427089.2:p.Ala2313Ser
ENST00000508624.5:c.*6259G>T	ENSP00000424265.1:n.*6259G>T
ENST00000520401.1:c.230+13559G>T
NM_000038.5:c.6937G>T	NP_000029.2:p.Ala2313Ser
NM_001127510.2:c.6937G>T	NP_001120982.1:p.Ala2313Ser
NM_001127511.2:c.6883G>T	NP_001120983.2:p.Ala2295Ser
NM_001354895.1:c.6937G>T	NP_001341824.1:p.Ala2313Ser
NM_001354896.1:c.6991G>T	NP_001341825.1:p.Ala2331Ser
NM_001354897.1:c.6967G>T	NP_001341826.1:p.Ala2323Ser
NM_001354898.1:c.6862G>T	NP_001341827.1:p.Ala2288Ser
NM_001354899.1:c.6853G>T	NP_001341828.1:p.Ala2285Ser
NM_001354900.1:c.6814G>T	NP_001341829.1:p.Ala2272Ser
NM_001354901.1:c.6760G>T	NP_001341830.1:p.Ala2254Ser
NM_001354902.1:c.6664G>T	NP_001341831.1:p.Ala2222Ser
NM_001354903.1:c.6634G>T	NP_001341832.1:p.Ala2212Ser
NM_001354904.1:c.6559G>T	NP_001341833.1:p.Ala2187Ser
NM_001354905.1:c.6457G>T	NP_001341834.1:p.Ala2153Ser
NM_001354906.1:c.6088G>T	NP_001341835.1:p.Ala2030Ser
NM_000038.6:c.6937G>T MANE Select	NP_000029.2:p.Ala2313Ser
NM_001127510.3:c.6937G>T	NP_001120982.1:p.Ala2313Ser
NM_001127511.3:c.6883G>T	NP_001120983.2:p.Ala2295Ser
NM_001354895.2:c.6937G>T	NP_001341824.1:p.Ala2313Ser
NM_001354896.2:c.6991G>T	NP_001341825.1:p.Ala2331Ser
NM_001354897.2:c.6967G>T	NP_001341826.1:p.Ala2323Ser
NM_001354898.2:c.6862G>T	NP_001341827.1:p.Ala2288Ser
NM_001354899.2:c.6853G>T	NP_001341828.1:p.Ala2285Ser
NM_001354900.2:c.6814G>T	NP_001341829.1:p.Ala2272Ser
NM_001354901.2:c.6760G>T	NP_001341830.1:p.Ala2254Ser
NM_001354902.2:c.6664G>T	NP_001341831.1:p.Ala2222Ser
NM_001354903.2:c.6634G>T	NP_001341832.1:p.Ala2212Ser
NM_001354904.2:c.6559G>T	NP_001341833.1:p.Ala2187Ser
NM_001354905.2:c.6457G>T	NP_001341834.1:p.Ala2153Ser
NM_001354906.2:c.6088G>T	NP_001341835.1:p.Ala2030Ser