Canonical Allele Identifier: CA028939

Gene: APC

Linked Data

• dbSNP Id: rs111423620
• ExAC: 5:112164593 A / T
• gnomAD v2: 5-112164593-A-T
• gnomAD v4: 5-112828896-A-T
• MyVariant Identifiers: chr5:g.112164593A>T (hg19) ; chr5:g.112828896A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112828896A>T , CM000667.2:g.112828896A>T	GRCh38
NC_000005.9:g.112164593A>T , CM000667.1:g.112164593A>T	GRCh37
NC_000005.8:g.112192492A>T	NCBI36
NG_008481.4:g.141376A>T , LRG_130:g.141376A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1409-6055A>T	ENSP00000484935.2:n.1409-6055A>T
ENST00000504915.3:c.1721A>T	ENSP00000473355.2:p.Asp574Val
ENST00000505084.2:n.1723A>T
ENST00000505350.2:c.*1673A>T	ENSP00000481752.1:n.*1673A>T
ENST00000507379.6:c.1613A>T	ENSP00000423224.2:p.Asp538Val
ENST00000509732.6:c.1667A>T	ENSP00000426541.2:p.Asp556Val
ENST00000512211.7:c.1667A>T	ENSP00000423828.3:p.Asp556Val
ENST00000257430.9:c.1667A>T MANE Select	ENSP00000257430.4:p.Asp556Val
ENST00000257430.8:c.1667A>T	ENSP00000257430.4:p.Asp556Val
ENST00000502371.2:c.97-6055A>T
ENST00000504915.2:c.356A>T	ENSP00000473355.1:p.Asp119Val
ENST00000505084.1:n.154A>T
ENST00000507379.5:c.1613A>T	ENSP00000423224.1:p.Asp538Val
ENST00000508376.6:c.1667A>T	ENSP00000427089.2:p.Asp556Val
ENST00000508624.5:c.*989A>T	ENSP00000424265.1:n.*989A>T
ENST00000512211.6:c.1667A>T	ENSP00000423828.2:p.Asp556Val
ENST00000520401.1:c.154A>T
NM_000038.5:c.1667A>T	NP_000029.2:p.Asp556Val
NM_001127510.2:c.1667A>T	NP_001120982.1:p.Asp556Val
NM_001127511.2:c.1613A>T	NP_001120983.2:p.Asp538Val
NM_001354895.1:c.1667A>T	NP_001341824.1:p.Asp556Val
NM_001354896.1:c.1721A>T	NP_001341825.1:p.Asp574Val
NM_001354897.1:c.1697A>T	NP_001341826.1:p.Asp566Val
NM_001354898.1:c.1592A>T	NP_001341827.1:p.Asp531Val
NM_001354899.1:c.1583A>T	NP_001341828.1:p.Asp528Val
NM_001354900.1:c.1544A>T	NP_001341829.1:p.Asp515Val
NM_001354901.1:c.1490A>T	NP_001341830.1:p.Asp497Val
NM_001354902.1:c.1394A>T	NP_001341831.1:p.Asp465Val
NM_001354903.1:c.1364A>T	NP_001341832.1:p.Asp455Val
NM_001354904.1:c.1289A>T	NP_001341833.1:p.Asp430Val
NM_001354905.1:c.1187A>T	NP_001341834.1:p.Asp396Val
NM_001354906.1:c.818A>T	NP_001341835.1:p.Asp273Val
NM_000038.6:c.1667A>T MANE Select	NP_000029.2:p.Asp556Val
NM_001127510.3:c.1667A>T	NP_001120982.1:p.Asp556Val
NM_001127511.3:c.1613A>T	NP_001120983.2:p.Asp538Val
NM_001354895.2:c.1667A>T	NP_001341824.1:p.Asp556Val
NM_001354896.2:c.1721A>T	NP_001341825.1:p.Asp574Val
NM_001354897.2:c.1697A>T	NP_001341826.1:p.Asp566Val
NM_001354898.2:c.1592A>T	NP_001341827.1:p.Asp531Val
NM_001354899.2:c.1583A>T	NP_001341828.1:p.Asp528Val
NM_001354900.2:c.1544A>T	NP_001341829.1:p.Asp515Val
NM_001354901.2:c.1490A>T	NP_001341830.1:p.Asp497Val
NM_001354902.2:c.1394A>T	NP_001341831.1:p.Asp465Val
NM_001354903.2:c.1364A>T	NP_001341832.1:p.Asp455Val
NM_001354904.2:c.1289A>T	NP_001341833.1:p.Asp430Val
NM_001354905.2:c.1187A>T	NP_001341834.1:p.Asp396Val
NM_001354906.2:c.818A>T	NP_001341835.1:p.Asp273Val