Canonical Allele Identifier: CA16029690

Gene: APC

Linked Data

• dbSNP Id: rs863225347
• gnomAD v4: 5-112839404-T-G
• MyVariant Identifiers: chr5:g.112175101T>G (hg19) ; chr5:g.112839404T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839404T>G , CM000667.2:g.112839404T>G	GRCh38
NC_000005.9:g.112175101T>G , CM000667.1:g.112175101T>G	GRCh37
NC_000005.8:g.112203000T>G	NCBI36
NG_008481.4:g.151884T>G , LRG_130:g.151884T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.3475T>G	ENSP00000484935.2:n.3475T>G
ENST00000504915.3:c.3864T>G	ENSP00000473355.2:p.Cys1288Trp
ENST00000505350.2:c.*3816T>G	ENSP00000481752.1:n.*3816T>G
ENST00000507379.6:c.3756T>G	ENSP00000423224.2:p.Cys1252Trp
ENST00000509732.6:c.3810T>G	ENSP00000426541.2:p.Cys1270Trp
ENST00000512211.7:c.3810T>G	ENSP00000423828.3:p.Cys1270Trp
ENST00000257430.9:c.3810T>G MANE Select	ENSP00000257430.4:p.Cys1270Trp
ENST00000257430.8:c.3810T>G	ENSP00000257430.4:p.Cys1270Trp
ENST00000502371.2:c.2163T>G
ENST00000508376.6:c.3810T>G	ENSP00000427089.2:p.Cys1270Trp
ENST00000508624.5:c.*3132T>G	ENSP00000424265.1:n.*3132T>G
ENST00000512211.6:c.3810T>G	ENSP00000423828.2:p.Cys1270Trp
ENST00000520401.1:c.230+10432T>G
NM_000038.5:c.3810T>G	NP_000029.2:p.Cys1270Trp
NM_001127510.2:c.3810T>G	NP_001120982.1:p.Cys1270Trp
NM_001127511.2:c.3756T>G	NP_001120983.2:p.Cys1252Trp
NM_001354895.1:c.3810T>G	NP_001341824.1:p.Cys1270Trp
NM_001354896.1:c.3864T>G	NP_001341825.1:p.Cys1288Trp
NM_001354897.1:c.3840T>G	NP_001341826.1:p.Cys1280Trp
NM_001354898.1:c.3735T>G	NP_001341827.1:p.Cys1245Trp
NM_001354899.1:c.3726T>G	NP_001341828.1:p.Cys1242Trp
NM_001354900.1:c.3687T>G	NP_001341829.1:p.Cys1229Trp
NM_001354901.1:c.3633T>G	NP_001341830.1:p.Cys1211Trp
NM_001354902.1:c.3537T>G	NP_001341831.1:p.Cys1179Trp
NM_001354903.1:c.3507T>G	NP_001341832.1:p.Cys1169Trp
NM_001354904.1:c.3432T>G	NP_001341833.1:p.Cys1144Trp
NM_001354905.1:c.3330T>G	NP_001341834.1:p.Cys1110Trp
NM_001354906.1:c.2961T>G	NP_001341835.1:p.Cys987Trp
NM_000038.6:c.3810T>G MANE Select	NP_000029.2:p.Cys1270Trp
NM_001127510.3:c.3810T>G	NP_001120982.1:p.Cys1270Trp
NM_001127511.3:c.3756T>G	NP_001120983.2:p.Cys1252Trp
NM_001354895.2:c.3810T>G	NP_001341824.1:p.Cys1270Trp
NM_001354896.2:c.3864T>G	NP_001341825.1:p.Cys1288Trp
NM_001354897.2:c.3840T>G	NP_001341826.1:p.Cys1280Trp
NM_001354898.2:c.3735T>G	NP_001341827.1:p.Cys1245Trp
NM_001354899.2:c.3726T>G	NP_001341828.1:p.Cys1242Trp
NM_001354900.2:c.3687T>G	NP_001341829.1:p.Cys1229Trp
NM_001354901.2:c.3633T>G	NP_001341830.1:p.Cys1211Trp
NM_001354902.2:c.3537T>G	NP_001341831.1:p.Cys1179Trp
NM_001354903.2:c.3507T>G	NP_001341832.1:p.Cys1169Trp
NM_001354904.2:c.3432T>G	NP_001341833.1:p.Cys1144Trp
NM_001354905.2:c.3330T>G	NP_001341834.1:p.Cys1110Trp
NM_001354906.2:c.2961T>G	NP_001341835.1:p.Cys987Trp