Canonical Allele Identifier: CA16028614

Gene: APC

Linked Data

• ClinVar Variation Id: 411388
• ClinVar RCV Id: RCV002230486 ; RCV002451131
• dbSNP Id: rs1060503283
• MyVariant Identifiers: chr5:g.112174610G>T (hg19) ; chr5:g.112838913G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838913G>T , CM000667.2:g.112838913G>T	GRCh38
NC_000005.9:g.112174610G>T , CM000667.1:g.112174610G>T	GRCh37
NC_000005.8:g.112202509G>T	NCBI36
NG_008481.4:g.151393G>T , LRG_130:g.151393G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.2984G>T	ENSP00000484935.2:n.2984G>T
ENST00000504915.3:c.3373G>T	ENSP00000473355.2:p.Ala1125Ser
ENST00000505350.2:c.*3325G>T	ENSP00000481752.1:n.*3325G>T
ENST00000507379.6:c.3265G>T	ENSP00000423224.2:p.Ala1089Ser
ENST00000509732.6:c.3319G>T	ENSP00000426541.2:p.Ala1107Ser
ENST00000512211.7:c.3319G>T	ENSP00000423828.3:p.Ala1107Ser
ENST00000257430.9:c.3319G>T MANE Select	ENSP00000257430.4:p.Ala1107Ser
ENST00000257430.8:c.3319G>T	ENSP00000257430.4:p.Ala1107Ser
ENST00000502371.2:c.1672G>T
ENST00000507379.5:c.3265G>T	ENSP00000423224.1:p.Ala1089Ser
ENST00000508376.6:c.3319G>T	ENSP00000427089.2:p.Ala1107Ser
ENST00000508624.5:c.*2641G>T	ENSP00000424265.1:n.*2641G>T
ENST00000512211.6:c.3319G>T	ENSP00000423828.2:p.Ala1107Ser
ENST00000520401.1:c.230+9941G>T
NM_000038.5:c.3319G>T	NP_000029.2:p.Ala1107Ser
NM_001127510.2:c.3319G>T	NP_001120982.1:p.Ala1107Ser
NM_001127511.2:c.3265G>T	NP_001120983.2:p.Ala1089Ser
NM_001354895.1:c.3319G>T	NP_001341824.1:p.Ala1107Ser
NM_001354896.1:c.3373G>T	NP_001341825.1:p.Ala1125Ser
NM_001354897.1:c.3349G>T	NP_001341826.1:p.Ala1117Ser
NM_001354898.1:c.3244G>T	NP_001341827.1:p.Ala1082Ser
NM_001354899.1:c.3235G>T	NP_001341828.1:p.Ala1079Ser
NM_001354900.1:c.3196G>T	NP_001341829.1:p.Ala1066Ser
NM_001354901.1:c.3142G>T	NP_001341830.1:p.Ala1048Ser
NM_001354902.1:c.3046G>T	NP_001341831.1:p.Ala1016Ser
NM_001354903.1:c.3016G>T	NP_001341832.1:p.Ala1006Ser
NM_001354904.1:c.2941G>T	NP_001341833.1:p.Ala981Ser
NM_001354905.1:c.2839G>T	NP_001341834.1:p.Ala947Ser
NM_001354906.1:c.2470G>T	NP_001341835.1:p.Ala824Ser
NM_000038.6:c.3319G>T MANE Select	NP_000029.2:p.Ala1107Ser
NM_001127510.3:c.3319G>T	NP_001120982.1:p.Ala1107Ser
NM_001127511.3:c.3265G>T	NP_001120983.2:p.Ala1089Ser
NM_001354895.2:c.3319G>T	NP_001341824.1:p.Ala1107Ser
NM_001354896.2:c.3373G>T	NP_001341825.1:p.Ala1125Ser
NM_001354897.2:c.3349G>T	NP_001341826.1:p.Ala1117Ser
NM_001354898.2:c.3244G>T	NP_001341827.1:p.Ala1082Ser
NM_001354899.2:c.3235G>T	NP_001341828.1:p.Ala1079Ser
NM_001354900.2:c.3196G>T	NP_001341829.1:p.Ala1066Ser
NM_001354901.2:c.3142G>T	NP_001341830.1:p.Ala1048Ser
NM_001354902.2:c.3046G>T	NP_001341831.1:p.Ala1016Ser
NM_001354903.2:c.3016G>T	NP_001341832.1:p.Ala1006Ser
NM_001354904.2:c.2941G>T	NP_001341833.1:p.Ala981Ser
NM_001354905.2:c.2839G>T	NP_001341834.1:p.Ala947Ser
NM_001354906.2:c.2470G>T	NP_001341835.1:p.Ala824Ser