Canonical Allele Identifier: CA16029686

Gene: APC

Linked Data

• dbSNP Id: rs2149899443
• gnomAD v4: 5-112839402-T-C
• MyVariant Identifiers: chr5:g.112175099T>C (hg19) ; chr5:g.112839402T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839402T>C , CM000667.2:g.112839402T>C	GRCh38
NC_000005.9:g.112175099T>C , CM000667.1:g.112175099T>C	GRCh37
NC_000005.8:g.112202998T>C	NCBI36
NG_008481.4:g.151882T>C , LRG_130:g.151882T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.3473T>C	ENSP00000484935.2:n.3473T>C
ENST00000504915.3:c.3862T>C	ENSP00000473355.2:p.Cys1288Arg
ENST00000505350.2:c.*3814T>C	ENSP00000481752.1:n.*3814T>C
ENST00000507379.6:c.3754T>C	ENSP00000423224.2:p.Cys1252Arg
ENST00000509732.6:c.3808T>C	ENSP00000426541.2:p.Cys1270Arg
ENST00000512211.7:c.3808T>C	ENSP00000423828.3:p.Cys1270Arg
ENST00000257430.9:c.3808T>C MANE Select	ENSP00000257430.4:p.Cys1270Arg
ENST00000257430.8:c.3808T>C	ENSP00000257430.4:p.Cys1270Arg
ENST00000502371.2:c.2161T>C
ENST00000508376.6:c.3808T>C	ENSP00000427089.2:p.Cys1270Arg
ENST00000508624.5:c.*3130T>C	ENSP00000424265.1:n.*3130T>C
ENST00000512211.6:c.3808T>C	ENSP00000423828.2:p.Cys1270Arg
ENST00000520401.1:c.230+10430T>C
NM_000038.5:c.3808T>C	NP_000029.2:p.Cys1270Arg
NM_001127510.2:c.3808T>C	NP_001120982.1:p.Cys1270Arg
NM_001127511.2:c.3754T>C	NP_001120983.2:p.Cys1252Arg
NM_001354895.1:c.3808T>C	NP_001341824.1:p.Cys1270Arg
NM_001354896.1:c.3862T>C	NP_001341825.1:p.Cys1288Arg
NM_001354897.1:c.3838T>C	NP_001341826.1:p.Cys1280Arg
NM_001354898.1:c.3733T>C	NP_001341827.1:p.Cys1245Arg
NM_001354899.1:c.3724T>C	NP_001341828.1:p.Cys1242Arg
NM_001354900.1:c.3685T>C	NP_001341829.1:p.Cys1229Arg
NM_001354901.1:c.3631T>C	NP_001341830.1:p.Cys1211Arg
NM_001354902.1:c.3535T>C	NP_001341831.1:p.Cys1179Arg
NM_001354903.1:c.3505T>C	NP_001341832.1:p.Cys1169Arg
NM_001354904.1:c.3430T>C	NP_001341833.1:p.Cys1144Arg
NM_001354905.1:c.3328T>C	NP_001341834.1:p.Cys1110Arg
NM_001354906.1:c.2959T>C	NP_001341835.1:p.Cys987Arg
NM_000038.6:c.3808T>C MANE Select	NP_000029.2:p.Cys1270Arg
NM_001127510.3:c.3808T>C	NP_001120982.1:p.Cys1270Arg
NM_001127511.3:c.3754T>C	NP_001120983.2:p.Cys1252Arg
NM_001354895.2:c.3808T>C	NP_001341824.1:p.Cys1270Arg
NM_001354896.2:c.3862T>C	NP_001341825.1:p.Cys1288Arg
NM_001354897.2:c.3838T>C	NP_001341826.1:p.Cys1280Arg
NM_001354898.2:c.3733T>C	NP_001341827.1:p.Cys1245Arg
NM_001354899.2:c.3724T>C	NP_001341828.1:p.Cys1242Arg
NM_001354900.2:c.3685T>C	NP_001341829.1:p.Cys1229Arg
NM_001354901.2:c.3631T>C	NP_001341830.1:p.Cys1211Arg
NM_001354902.2:c.3535T>C	NP_001341831.1:p.Cys1179Arg
NM_001354903.2:c.3505T>C	NP_001341832.1:p.Cys1169Arg
NM_001354904.2:c.3430T>C	NP_001341833.1:p.Cys1144Arg
NM_001354905.2:c.3328T>C	NP_001341834.1:p.Cys1110Arg
NM_001354906.2:c.2959T>C	NP_001341835.1:p.Cys987Arg