Canonical Allele Identifier: CA16037750

Gene: APC

Linked Data

• dbSNP Id: rs1284157254
• MyVariant Identifiers: chr5:g.112178845T>A (hg19) ; chr5:g.112843148T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843148T>A , CM000667.2:g.112843148T>A	GRCh38
NC_000005.9:g.112178845T>A , CM000667.1:g.112178845T>A	GRCh37
NC_000005.8:g.112206744T>A	NCBI36
NG_008481.4:g.155628T>A , LRG_130:g.155628T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7608T>A	ENSP00000473355.2:p.Asn2536Lys
ENST00000505350.2:c.*7560T>A	ENSP00000481752.1:n.*7560T>A
ENST00000507379.6:c.7500T>A	ENSP00000423224.2:p.Asn2500Lys
ENST00000509732.6:c.7554T>A	ENSP00000426541.2:p.Asn2518Lys
ENST00000512211.7:c.7554T>A	ENSP00000423828.3:p.Asn2518Lys
ENST00000257430.9:c.7554T>A MANE Select	ENSP00000257430.4:p.Asn2518Lys
ENST00000257430.8:c.7554T>A	ENSP00000257430.4:p.Asn2518Lys
ENST00000508376.6:c.7554T>A	ENSP00000427089.2:p.Asn2518Lys
ENST00000520401.1:c.231-13501T>A
NM_000038.5:c.7554T>A	NP_000029.2:p.Asn2518Lys
NM_001127510.2:c.7554T>A	NP_001120982.1:p.Asn2518Lys
NM_001127511.2:c.7500T>A	NP_001120983.2:p.Asn2500Lys
NM_001354895.1:c.7554T>A	NP_001341824.1:p.Asn2518Lys
NM_001354896.1:c.7608T>A	NP_001341825.1:p.Asn2536Lys
NM_001354897.1:c.7584T>A	NP_001341826.1:p.Asn2528Lys
NM_001354898.1:c.7479T>A	NP_001341827.1:p.Asn2493Lys
NM_001354899.1:c.7470T>A	NP_001341828.1:p.Asn2490Lys
NM_001354900.1:c.7431T>A	NP_001341829.1:p.Asn2477Lys
NM_001354901.1:c.7377T>A	NP_001341830.1:p.Asn2459Lys
NM_001354902.1:c.7281T>A	NP_001341831.1:p.Asn2427Lys
NM_001354903.1:c.7251T>A	NP_001341832.1:p.Asn2417Lys
NM_001354904.1:c.7176T>A	NP_001341833.1:p.Asn2392Lys
NM_001354905.1:c.7074T>A	NP_001341834.1:p.Asn2358Lys
NM_001354906.1:c.6705T>A	NP_001341835.1:p.Asn2235Lys
NM_000038.6:c.7554T>A MANE Select	NP_000029.2:p.Asn2518Lys
NM_001127510.3:c.7554T>A	NP_001120982.1:p.Asn2518Lys
NM_001127511.3:c.7500T>A	NP_001120983.2:p.Asn2500Lys
NM_001354895.2:c.7554T>A	NP_001341824.1:p.Asn2518Lys
NM_001354896.2:c.7608T>A	NP_001341825.1:p.Asn2536Lys
NM_001354897.2:c.7584T>A	NP_001341826.1:p.Asn2528Lys
NM_001354898.2:c.7479T>A	NP_001341827.1:p.Asn2493Lys
NM_001354899.2:c.7470T>A	NP_001341828.1:p.Asn2490Lys
NM_001354900.2:c.7431T>A	NP_001341829.1:p.Asn2477Lys
NM_001354901.2:c.7377T>A	NP_001341830.1:p.Asn2459Lys
NM_001354902.2:c.7281T>A	NP_001341831.1:p.Asn2427Lys
NM_001354903.2:c.7251T>A	NP_001341832.1:p.Asn2417Lys
NM_001354904.2:c.7176T>A	NP_001341833.1:p.Asn2392Lys
NM_001354905.2:c.7074T>A	NP_001341834.1:p.Asn2358Lys
NM_001354906.2:c.6705T>A	NP_001341835.1:p.Asn2235Lys