Canonical Allele Identifier: CA445963526

Gene: APC

Linked Data

• ClinVar Variation Id: 2566937
• ClinVar RCV Id: RCV003306820 ; RCV003535001
• dbSNP Id: rs2149863291
• gnomAD v4: 5-112837802-G-A
• MyVariant Identifiers: chr5:g.112173499G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837802G>A , CM000667.2:g.112837802G>A	GRCh38
NC_000005.9:g.112173499G>A , CM000667.1:g.112173499G>A	GRCh37
NC_000005.8:g.112201398G>A	NCBI36
NG_008481.4:g.150282G>A , LRG_130:g.150282G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1873G>A	ENSP00000484935.2:n.1873G>A
ENST00000504915.3:c.2262G>A	ENSP00000473355.2:p.Lys754=
ENST00000505350.2:c.*2214G>A	ENSP00000481752.1:n.*2214G>A
ENST00000507379.6:c.2154G>A	ENSP00000423224.2:p.Lys718=
ENST00000509732.6:c.2208G>A	ENSP00000426541.2:p.Lys736=
ENST00000512211.7:c.2208G>A	ENSP00000423828.3:p.Lys736=
ENST00000257430.9:c.2208G>A MANE Select	ENSP00000257430.4:p.Lys736=
ENST00000257430.8:c.2208G>A	ENSP00000257430.4:p.Lys736=
ENST00000502371.2:c.561G>A
ENST00000507379.5:c.2154G>A	ENSP00000423224.1:p.Lys718=
ENST00000508376.6:c.2208G>A	ENSP00000427089.2:p.Lys736=
ENST00000508624.5:c.*1530G>A	ENSP00000424265.1:n.*1530G>A
ENST00000512211.6:c.2208G>A	ENSP00000423828.2:p.Lys736=
ENST00000520401.1:c.230+8830G>A
NM_000038.5:c.2208G>A	NP_000029.2:p.Lys736=
NM_001127510.2:c.2208G>A	NP_001120982.1:p.Lys736=
NM_001127511.2:c.2154G>A	NP_001120983.2:p.Lys718=
NM_001354895.1:c.2208G>A	NP_001341824.1:p.Lys736=
NM_001354896.1:c.2262G>A	NP_001341825.1:p.Lys754=
NM_001354897.1:c.2238G>A	NP_001341826.1:p.Lys746=
NM_001354898.1:c.2133G>A	NP_001341827.1:p.Lys711=
NM_001354899.1:c.2124G>A	NP_001341828.1:p.Lys708=
NM_001354900.1:c.2085G>A	NP_001341829.1:p.Lys695=
NM_001354901.1:c.2031G>A	NP_001341830.1:p.Lys677=
NM_001354902.1:c.1935G>A	NP_001341831.1:p.Lys645=
NM_001354903.1:c.1905G>A	NP_001341832.1:p.Lys635=
NM_001354904.1:c.1830G>A	NP_001341833.1:p.Lys610=
NM_001354905.1:c.1728G>A	NP_001341834.1:p.Lys576=
NM_001354906.1:c.1359G>A	NP_001341835.1:p.Lys453=
NM_000038.6:c.2208G>A MANE Select	NP_000029.2:p.Lys736=
NM_001127510.3:c.2208G>A	NP_001120982.1:p.Lys736=
NM_001127511.3:c.2154G>A	NP_001120983.2:p.Lys718=
NM_001354895.2:c.2208G>A	NP_001341824.1:p.Lys736=
NM_001354896.2:c.2262G>A	NP_001341825.1:p.Lys754=
NM_001354897.2:c.2238G>A	NP_001341826.1:p.Lys746=
NM_001354898.2:c.2133G>A	NP_001341827.1:p.Lys711=
NM_001354899.2:c.2124G>A	NP_001341828.1:p.Lys708=
NM_001354900.2:c.2085G>A	NP_001341829.1:p.Lys695=
NM_001354901.2:c.2031G>A	NP_001341830.1:p.Lys677=
NM_001354902.2:c.1935G>A	NP_001341831.1:p.Lys645=
NM_001354903.2:c.1905G>A	NP_001341832.1:p.Lys635=
NM_001354904.2:c.1830G>A	NP_001341833.1:p.Lys610=
NM_001354905.2:c.1728G>A	NP_001341834.1:p.Lys576=
NM_001354906.2:c.1359G>A	NP_001341835.1:p.Lys453=