Canonical Allele Identifier: CA445963827

Gene: APC

Linked Data

• ClinVar Variation Id: 3148113
• ClinVar RCV Id: RCV004440015
• dbSNP Id: rs2149891493
• gnomAD v4: 5-112839011-G-A
• MyVariant Identifiers: chr5:g.112174708G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839011G>A , CM000667.2:g.112839011G>A	GRCh38
NC_000005.9:g.112174708G>A , CM000667.1:g.112174708G>A	GRCh37
NC_000005.8:g.112202607G>A	NCBI36
NG_008481.4:g.151491G>A , LRG_130:g.151491G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3082G>A	ENSP00000484935.2:n.3082G>A
ENST00000504915.3:c.3471G>A	ENSP00000473355.2:p.Lys1157=
ENST00000505350.2:c.*3423G>A	ENSP00000481752.1:n.*3423G>A
ENST00000507379.6:c.3363G>A	ENSP00000423224.2:p.Lys1121=
ENST00000509732.6:c.3417G>A	ENSP00000426541.2:p.Lys1139=
ENST00000512211.7:c.3417G>A	ENSP00000423828.3:p.Lys1139=
ENST00000257430.9:c.3417G>A MANE Select	ENSP00000257430.4:p.Lys1139=
ENST00000257430.8:c.3417G>A	ENSP00000257430.4:p.Lys1139=
ENST00000502371.2:c.1770G>A
ENST00000507379.5:c.3363G>A	ENSP00000423224.1:p.Lys1121=
ENST00000508376.6:c.3417G>A	ENSP00000427089.2:p.Lys1139=
ENST00000508624.5:c.*2739G>A	ENSP00000424265.1:n.*2739G>A
ENST00000512211.6:c.3417G>A	ENSP00000423828.2:p.Lys1139=
ENST00000520401.1:c.230+10039G>A
NM_000038.5:c.3417G>A	NP_000029.2:p.Lys1139=
NM_001127510.2:c.3417G>A	NP_001120982.1:p.Lys1139=
NM_001127511.2:c.3363G>A	NP_001120983.2:p.Lys1121=
NM_001354895.1:c.3417G>A	NP_001341824.1:p.Lys1139=
NM_001354896.1:c.3471G>A	NP_001341825.1:p.Lys1157=
NM_001354897.1:c.3447G>A	NP_001341826.1:p.Lys1149=
NM_001354898.1:c.3342G>A	NP_001341827.1:p.Lys1114=
NM_001354899.1:c.3333G>A	NP_001341828.1:p.Lys1111=
NM_001354900.1:c.3294G>A	NP_001341829.1:p.Lys1098=
NM_001354901.1:c.3240G>A	NP_001341830.1:p.Lys1080=
NM_001354902.1:c.3144G>A	NP_001341831.1:p.Lys1048=
NM_001354903.1:c.3114G>A	NP_001341832.1:p.Lys1038=
NM_001354904.1:c.3039G>A	NP_001341833.1:p.Lys1013=
NM_001354905.1:c.2937G>A	NP_001341834.1:p.Lys979=
NM_001354906.1:c.2568G>A	NP_001341835.1:p.Lys856=
NM_000038.6:c.3417G>A MANE Select	NP_000029.2:p.Lys1139=
NM_001127510.3:c.3417G>A	NP_001120982.1:p.Lys1139=
NM_001127511.3:c.3363G>A	NP_001120983.2:p.Lys1121=
NM_001354895.2:c.3417G>A	NP_001341824.1:p.Lys1139=
NM_001354896.2:c.3471G>A	NP_001341825.1:p.Lys1157=
NM_001354897.2:c.3447G>A	NP_001341826.1:p.Lys1149=
NM_001354898.2:c.3342G>A	NP_001341827.1:p.Lys1114=
NM_001354899.2:c.3333G>A	NP_001341828.1:p.Lys1111=
NM_001354900.2:c.3294G>A	NP_001341829.1:p.Lys1098=
NM_001354901.2:c.3240G>A	NP_001341830.1:p.Lys1080=
NM_001354902.2:c.3144G>A	NP_001341831.1:p.Lys1048=
NM_001354903.2:c.3114G>A	NP_001341832.1:p.Lys1038=
NM_001354904.2:c.3039G>A	NP_001341833.1:p.Lys1013=
NM_001354905.2:c.2937G>A	NP_001341834.1:p.Lys979=
NM_001354906.2:c.2568G>A	NP_001341835.1:p.Lys856=