Canonical Allele Identifier: CA16032949

Gene: APC

Linked Data

• dbSNP Id: rs2149937248
• MyVariant Identifiers: chr5:g.112176604A>C (hg19) ; chr5:g.112840907A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840907A>C , CM000667.2:g.112840907A>C	GRCh38
NC_000005.9:g.112176604A>C , CM000667.1:g.112176604A>C	GRCh37
NC_000005.8:g.112204503A>C	NCBI36
NG_008481.4:g.153387A>C , LRG_130:g.153387A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5367A>C	ENSP00000473355.2:p.Lys1789Asn
ENST00000505350.2:c.*5319A>C	ENSP00000481752.1:n.*5319A>C
ENST00000507379.6:c.5259A>C	ENSP00000423224.2:p.Lys1753Asn
ENST00000509732.6:c.5313A>C	ENSP00000426541.2:p.Lys1771Asn
ENST00000512211.7:c.5313A>C	ENSP00000423828.3:p.Lys1771Asn
ENST00000257430.9:c.5313A>C MANE Select	ENSP00000257430.4:p.Lys1771Asn
ENST00000257430.8:c.5313A>C	ENSP00000257430.4:p.Lys1771Asn
ENST00000508376.6:c.5313A>C	ENSP00000427089.2:p.Lys1771Asn
ENST00000508624.5:c.*4635A>C	ENSP00000424265.1:n.*4635A>C
ENST00000520401.1:c.230+11935A>C
NM_000038.5:c.5313A>C	NP_000029.2:p.Lys1771Asn
NM_001127510.2:c.5313A>C	NP_001120982.1:p.Lys1771Asn
NM_001127511.2:c.5259A>C	NP_001120983.2:p.Lys1753Asn
NM_001354895.1:c.5313A>C	NP_001341824.1:p.Lys1771Asn
NM_001354896.1:c.5367A>C	NP_001341825.1:p.Lys1789Asn
NM_001354897.1:c.5343A>C	NP_001341826.1:p.Lys1781Asn
NM_001354898.1:c.5238A>C	NP_001341827.1:p.Lys1746Asn
NM_001354899.1:c.5229A>C	NP_001341828.1:p.Lys1743Asn
NM_001354900.1:c.5190A>C	NP_001341829.1:p.Lys1730Asn
NM_001354901.1:c.5136A>C	NP_001341830.1:p.Lys1712Asn
NM_001354902.1:c.5040A>C	NP_001341831.1:p.Lys1680Asn
NM_001354903.1:c.5010A>C	NP_001341832.1:p.Lys1670Asn
NM_001354904.1:c.4935A>C	NP_001341833.1:p.Lys1645Asn
NM_001354905.1:c.4833A>C	NP_001341834.1:p.Lys1611Asn
NM_001354906.1:c.4464A>C	NP_001341835.1:p.Lys1488Asn
NM_000038.6:c.5313A>C MANE Select	NP_000029.2:p.Lys1771Asn
NM_001127510.3:c.5313A>C	NP_001120982.1:p.Lys1771Asn
NM_001127511.3:c.5259A>C	NP_001120983.2:p.Lys1753Asn
NM_001354895.2:c.5313A>C	NP_001341824.1:p.Lys1771Asn
NM_001354896.2:c.5367A>C	NP_001341825.1:p.Lys1789Asn
NM_001354897.2:c.5343A>C	NP_001341826.1:p.Lys1781Asn
NM_001354898.2:c.5238A>C	NP_001341827.1:p.Lys1746Asn
NM_001354899.2:c.5229A>C	NP_001341828.1:p.Lys1743Asn
NM_001354900.2:c.5190A>C	NP_001341829.1:p.Lys1730Asn
NM_001354901.2:c.5136A>C	NP_001341830.1:p.Lys1712Asn
NM_001354902.2:c.5040A>C	NP_001341831.1:p.Lys1680Asn
NM_001354903.2:c.5010A>C	NP_001341832.1:p.Lys1670Asn
NM_001354904.2:c.4935A>C	NP_001341833.1:p.Lys1645Asn
NM_001354905.2:c.4833A>C	NP_001341834.1:p.Lys1611Asn
NM_001354906.2:c.4464A>C	NP_001341835.1:p.Lys1488Asn