Canonical Allele Identifier: CA16027453

Gene: APC

Linked Data

• dbSNP Id: rs757221580
• MyVariant Identifiers: chr5:g.112174099T>A (hg19) ; chr5:g.112838402T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838402T>A , CM000667.2:g.112838402T>A	GRCh38
NC_000005.9:g.112174099T>A , CM000667.1:g.112174099T>A	GRCh37
NC_000005.8:g.112201998T>A	NCBI36
NG_008481.4:g.150882T>A , LRG_130:g.150882T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.2473T>A	ENSP00000484935.2:n.2473T>A
ENST00000504915.3:c.2862T>A	ENSP00000473355.2:p.Asn954Lys
ENST00000505350.2:c.*2814T>A	ENSP00000481752.1:n.*2814T>A
ENST00000507379.6:c.2754T>A	ENSP00000423224.2:p.Asn918Lys
ENST00000509732.6:c.2808T>A	ENSP00000426541.2:p.Asn936Lys
ENST00000512211.7:c.2808T>A	ENSP00000423828.3:p.Asn936Lys
ENST00000257430.9:c.2808T>A MANE Select	ENSP00000257430.4:p.Asn936Lys
ENST00000257430.8:c.2808T>A	ENSP00000257430.4:p.Asn936Lys
ENST00000502371.2:c.1161T>A
ENST00000507379.5:c.2754T>A	ENSP00000423224.1:p.Asn918Lys
ENST00000508376.6:c.2808T>A	ENSP00000427089.2:p.Asn936Lys
ENST00000508624.5:c.*2130T>A	ENSP00000424265.1:n.*2130T>A
ENST00000512211.6:c.2808T>A	ENSP00000423828.2:p.Asn936Lys
ENST00000520401.1:c.230+9430T>A
NM_000038.5:c.2808T>A	NP_000029.2:p.Asn936Lys
NM_001127510.2:c.2808T>A	NP_001120982.1:p.Asn936Lys
NM_001127511.2:c.2754T>A	NP_001120983.2:p.Asn918Lys
NM_001354895.1:c.2808T>A	NP_001341824.1:p.Asn936Lys
NM_001354896.1:c.2862T>A	NP_001341825.1:p.Asn954Lys
NM_001354897.1:c.2838T>A	NP_001341826.1:p.Asn946Lys
NM_001354898.1:c.2733T>A	NP_001341827.1:p.Asn911Lys
NM_001354899.1:c.2724T>A	NP_001341828.1:p.Asn908Lys
NM_001354900.1:c.2685T>A	NP_001341829.1:p.Asn895Lys
NM_001354901.1:c.2631T>A	NP_001341830.1:p.Asn877Lys
NM_001354902.1:c.2535T>A	NP_001341831.1:p.Asn845Lys
NM_001354903.1:c.2505T>A	NP_001341832.1:p.Asn835Lys
NM_001354904.1:c.2430T>A	NP_001341833.1:p.Asn810Lys
NM_001354905.1:c.2328T>A	NP_001341834.1:p.Asn776Lys
NM_001354906.1:c.1959T>A	NP_001341835.1:p.Asn653Lys
NM_000038.6:c.2808T>A MANE Select	NP_000029.2:p.Asn936Lys
NM_001127510.3:c.2808T>A	NP_001120982.1:p.Asn936Lys
NM_001127511.3:c.2754T>A	NP_001120983.2:p.Asn918Lys
NM_001354895.2:c.2808T>A	NP_001341824.1:p.Asn936Lys
NM_001354896.2:c.2862T>A	NP_001341825.1:p.Asn954Lys
NM_001354897.2:c.2838T>A	NP_001341826.1:p.Asn946Lys
NM_001354898.2:c.2733T>A	NP_001341827.1:p.Asn911Lys
NM_001354899.2:c.2724T>A	NP_001341828.1:p.Asn908Lys
NM_001354900.2:c.2685T>A	NP_001341829.1:p.Asn895Lys
NM_001354901.2:c.2631T>A	NP_001341830.1:p.Asn877Lys
NM_001354902.2:c.2535T>A	NP_001341831.1:p.Asn845Lys
NM_001354903.2:c.2505T>A	NP_001341832.1:p.Asn835Lys
NM_001354904.2:c.2430T>A	NP_001341833.1:p.Asn810Lys
NM_001354905.2:c.2328T>A	NP_001341834.1:p.Asn776Lys
NM_001354906.2:c.1959T>A	NP_001341835.1:p.Asn653Lys