Canonical Allele Identifier: CA16026179

Gene: APC

Linked Data

• ClinVar Variation Id: 1787783
• ClinVar RCV Id: RCV002425880 ; RCV003337408
• dbSNP Id: rs2149863411
• MyVariant Identifiers: chr5:g.112173503A>T (hg19) ; chr5:g.112837806A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837806A>T , CM000667.2:g.112837806A>T	GRCh38
NC_000005.9:g.112173503A>T , CM000667.1:g.112173503A>T	GRCh37
NC_000005.8:g.112201402A>T	NCBI36
NG_008481.4:g.150286A>T , LRG_130:g.150286A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1877A>T	ENSP00000484935.2:n.1877A>T
ENST00000504915.3:c.2266A>T	ENSP00000473355.2:p.Lys756Ter
ENST00000505350.2:c.*2218A>T	ENSP00000481752.1:n.*2218A>T
ENST00000507379.6:c.2158A>T	ENSP00000423224.2:p.Lys720Ter
ENST00000509732.6:c.2212A>T	ENSP00000426541.2:p.Lys738Ter
ENST00000512211.7:c.2212A>T	ENSP00000423828.3:p.Lys738Ter
ENST00000257430.9:c.2212A>T MANE Select	ENSP00000257430.4:p.Lys738Ter
ENST00000257430.8:c.2212A>T	ENSP00000257430.4:p.Lys738Ter
ENST00000502371.2:c.565A>T
ENST00000507379.5:c.2158A>T	ENSP00000423224.1:p.Lys720Ter
ENST00000508376.6:c.2212A>T	ENSP00000427089.2:p.Lys738Ter
ENST00000508624.5:c.*1534A>T	ENSP00000424265.1:n.*1534A>T
ENST00000512211.6:c.2212A>T	ENSP00000423828.2:p.Lys738Ter
ENST00000520401.1:c.230+8834A>T
NM_000038.5:c.2212A>T	NP_000029.2:p.Lys738Ter
NM_001127510.2:c.2212A>T	NP_001120982.1:p.Lys738Ter
NM_001127511.2:c.2158A>T	NP_001120983.2:p.Lys720Ter
NM_001354895.1:c.2212A>T	NP_001341824.1:p.Lys738Ter
NM_001354896.1:c.2266A>T	NP_001341825.1:p.Lys756Ter
NM_001354897.1:c.2242A>T	NP_001341826.1:p.Lys748Ter
NM_001354898.1:c.2137A>T	NP_001341827.1:p.Lys713Ter
NM_001354899.1:c.2128A>T	NP_001341828.1:p.Lys710Ter
NM_001354900.1:c.2089A>T	NP_001341829.1:p.Lys697Ter
NM_001354901.1:c.2035A>T	NP_001341830.1:p.Lys679Ter
NM_001354902.1:c.1939A>T	NP_001341831.1:p.Lys647Ter
NM_001354903.1:c.1909A>T	NP_001341832.1:p.Lys637Ter
NM_001354904.1:c.1834A>T	NP_001341833.1:p.Lys612Ter
NM_001354905.1:c.1732A>T	NP_001341834.1:p.Lys578Ter
NM_001354906.1:c.1363A>T	NP_001341835.1:p.Lys455Ter
NM_000038.6:c.2212A>T MANE Select	NP_000029.2:p.Lys738Ter
NM_001127510.3:c.2212A>T	NP_001120982.1:p.Lys738Ter
NM_001127511.3:c.2158A>T	NP_001120983.2:p.Lys720Ter
NM_001354895.2:c.2212A>T	NP_001341824.1:p.Lys738Ter
NM_001354896.2:c.2266A>T	NP_001341825.1:p.Lys756Ter
NM_001354897.2:c.2242A>T	NP_001341826.1:p.Lys748Ter
NM_001354898.2:c.2137A>T	NP_001341827.1:p.Lys713Ter
NM_001354899.2:c.2128A>T	NP_001341828.1:p.Lys710Ter
NM_001354900.2:c.2089A>T	NP_001341829.1:p.Lys697Ter
NM_001354901.2:c.2035A>T	NP_001341830.1:p.Lys679Ter
NM_001354902.2:c.1939A>T	NP_001341831.1:p.Lys647Ter
NM_001354903.2:c.1909A>T	NP_001341832.1:p.Lys637Ter
NM_001354904.2:c.1834A>T	NP_001341833.1:p.Lys612Ter
NM_001354905.2:c.1732A>T	NP_001341834.1:p.Lys578Ter
NM_001354906.2:c.1363A>T	NP_001341835.1:p.Lys455Ter