Canonical Allele Identifier: CA16028731

Gene: APC

Linked Data

• ClinVar Variation Id: 630669
• ClinVar RCV Id: RCV000776622 ; RCV001856132
• dbSNP Id: rs1561584350
• gnomAD v4: 5-112838970-A-T
• MyVariant Identifiers: chr5:g.112174667A>T (hg19) ; chr5:g.112838970A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838970A>T , CM000667.2:g.112838970A>T	GRCh38
NC_000005.9:g.112174667A>T , CM000667.1:g.112174667A>T	GRCh37
NC_000005.8:g.112202566A>T	NCBI36
NG_008481.4:g.151450A>T , LRG_130:g.151450A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3041A>T	ENSP00000484935.2:n.3041A>T
ENST00000504915.3:c.3430A>T	ENSP00000473355.2:p.Ser1144Cys
ENST00000505350.2:c.*3382A>T	ENSP00000481752.1:n.*3382A>T
ENST00000507379.6:c.3322A>T	ENSP00000423224.2:p.Ser1108Cys
ENST00000509732.6:c.3376A>T	ENSP00000426541.2:p.Ser1126Cys
ENST00000512211.7:c.3376A>T	ENSP00000423828.3:p.Ser1126Cys
ENST00000257430.9:c.3376A>T MANE Select	ENSP00000257430.4:p.Ser1126Cys
ENST00000257430.8:c.3376A>T	ENSP00000257430.4:p.Ser1126Cys
ENST00000502371.2:c.1729A>T
ENST00000507379.5:c.3322A>T	ENSP00000423224.1:p.Ser1108Cys
ENST00000508376.6:c.3376A>T	ENSP00000427089.2:p.Ser1126Cys
ENST00000508624.5:c.*2698A>T	ENSP00000424265.1:n.*2698A>T
ENST00000512211.6:c.3376A>T	ENSP00000423828.2:p.Ser1126Cys
ENST00000520401.1:c.230+9998A>T
NM_000038.5:c.3376A>T	NP_000029.2:p.Ser1126Cys
NM_001127510.2:c.3376A>T	NP_001120982.1:p.Ser1126Cys
NM_001127511.2:c.3322A>T	NP_001120983.2:p.Ser1108Cys
NM_001354895.1:c.3376A>T	NP_001341824.1:p.Ser1126Cys
NM_001354896.1:c.3430A>T	NP_001341825.1:p.Ser1144Cys
NM_001354897.1:c.3406A>T	NP_001341826.1:p.Ser1136Cys
NM_001354898.1:c.3301A>T	NP_001341827.1:p.Ser1101Cys
NM_001354899.1:c.3292A>T	NP_001341828.1:p.Ser1098Cys
NM_001354900.1:c.3253A>T	NP_001341829.1:p.Ser1085Cys
NM_001354901.1:c.3199A>T	NP_001341830.1:p.Ser1067Cys
NM_001354902.1:c.3103A>T	NP_001341831.1:p.Ser1035Cys
NM_001354903.1:c.3073A>T	NP_001341832.1:p.Ser1025Cys
NM_001354904.1:c.2998A>T	NP_001341833.1:p.Ser1000Cys
NM_001354905.1:c.2896A>T	NP_001341834.1:p.Ser966Cys
NM_001354906.1:c.2527A>T	NP_001341835.1:p.Ser843Cys
NM_000038.6:c.3376A>T MANE Select	NP_000029.2:p.Ser1126Cys
NM_001127510.3:c.3376A>T	NP_001120982.1:p.Ser1126Cys
NM_001127511.3:c.3322A>T	NP_001120983.2:p.Ser1108Cys
NM_001354895.2:c.3376A>T	NP_001341824.1:p.Ser1126Cys
NM_001354896.2:c.3430A>T	NP_001341825.1:p.Ser1144Cys
NM_001354897.2:c.3406A>T	NP_001341826.1:p.Ser1136Cys
NM_001354898.2:c.3301A>T	NP_001341827.1:p.Ser1101Cys
NM_001354899.2:c.3292A>T	NP_001341828.1:p.Ser1098Cys
NM_001354900.2:c.3253A>T	NP_001341829.1:p.Ser1085Cys
NM_001354901.2:c.3199A>T	NP_001341830.1:p.Ser1067Cys
NM_001354902.2:c.3103A>T	NP_001341831.1:p.Ser1035Cys
NM_001354903.2:c.3073A>T	NP_001341832.1:p.Ser1025Cys
NM_001354904.2:c.2998A>T	NP_001341833.1:p.Ser1000Cys
NM_001354905.2:c.2896A>T	NP_001341834.1:p.Ser966Cys
NM_001354906.2:c.2527A>T	NP_001341835.1:p.Ser843Cys