Canonical Allele Identifier: CA16028701

Gene: APC

Linked Data

• ClinVar Variation Id: 537528
• ClinVar RCV Id: RCV003538494
• dbSNP Id: rs1554084967
• MyVariant Identifiers: chr5:g.112174655A>C (hg19) ; chr5:g.112838958A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838958A>C , CM000667.2:g.112838958A>C	GRCh38
NC_000005.9:g.112174655A>C , CM000667.1:g.112174655A>C	GRCh37
NC_000005.8:g.112202554A>C	NCBI36
NG_008481.4:g.151438A>C , LRG_130:g.151438A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3029A>C	ENSP00000484935.2:n.3029A>C
ENST00000504915.3:c.3418A>C	ENSP00000473355.2:p.Asn1140His
ENST00000505350.2:c.*3370A>C	ENSP00000481752.1:n.*3370A>C
ENST00000507379.6:c.3310A>C	ENSP00000423224.2:p.Asn1104His
ENST00000509732.6:c.3364A>C	ENSP00000426541.2:p.Asn1122His
ENST00000512211.7:c.3364A>C	ENSP00000423828.3:p.Asn1122His
ENST00000257430.9:c.3364A>C MANE Select	ENSP00000257430.4:p.Asn1122His
ENST00000257430.8:c.3364A>C	ENSP00000257430.4:p.Asn1122His
ENST00000502371.2:c.1717A>C
ENST00000507379.5:c.3310A>C	ENSP00000423224.1:p.Asn1104His
ENST00000508376.6:c.3364A>C	ENSP00000427089.2:p.Asn1122His
ENST00000508624.5:c.*2686A>C	ENSP00000424265.1:n.*2686A>C
ENST00000512211.6:c.3364A>C	ENSP00000423828.2:p.Asn1122His
ENST00000520401.1:c.230+9986A>C
NM_000038.5:c.3364A>C	NP_000029.2:p.Asn1122His
NM_001127510.2:c.3364A>C	NP_001120982.1:p.Asn1122His
NM_001127511.2:c.3310A>C	NP_001120983.2:p.Asn1104His
NM_001354895.1:c.3364A>C	NP_001341824.1:p.Asn1122His
NM_001354896.1:c.3418A>C	NP_001341825.1:p.Asn1140His
NM_001354897.1:c.3394A>C	NP_001341826.1:p.Asn1132His
NM_001354898.1:c.3289A>C	NP_001341827.1:p.Asn1097His
NM_001354899.1:c.3280A>C	NP_001341828.1:p.Asn1094His
NM_001354900.1:c.3241A>C	NP_001341829.1:p.Asn1081His
NM_001354901.1:c.3187A>C	NP_001341830.1:p.Asn1063His
NM_001354902.1:c.3091A>C	NP_001341831.1:p.Asn1031His
NM_001354903.1:c.3061A>C	NP_001341832.1:p.Asn1021His
NM_001354904.1:c.2986A>C	NP_001341833.1:p.Asn996His
NM_001354905.1:c.2884A>C	NP_001341834.1:p.Asn962His
NM_001354906.1:c.2515A>C	NP_001341835.1:p.Asn839His
NM_000038.6:c.3364A>C MANE Select	NP_000029.2:p.Asn1122His
NM_001127510.3:c.3364A>C	NP_001120982.1:p.Asn1122His
NM_001127511.3:c.3310A>C	NP_001120983.2:p.Asn1104His
NM_001354895.2:c.3364A>C	NP_001341824.1:p.Asn1122His
NM_001354896.2:c.3418A>C	NP_001341825.1:p.Asn1140His
NM_001354897.2:c.3394A>C	NP_001341826.1:p.Asn1132His
NM_001354898.2:c.3289A>C	NP_001341827.1:p.Asn1097His
NM_001354899.2:c.3280A>C	NP_001341828.1:p.Asn1094His
NM_001354900.2:c.3241A>C	NP_001341829.1:p.Asn1081His
NM_001354901.2:c.3187A>C	NP_001341830.1:p.Asn1063His
NM_001354902.2:c.3091A>C	NP_001341831.1:p.Asn1031His
NM_001354903.2:c.3061A>C	NP_001341832.1:p.Asn1021His
NM_001354904.2:c.2986A>C	NP_001341833.1:p.Asn996His
NM_001354905.2:c.2884A>C	NP_001341834.1:p.Asn962His
NM_001354906.2:c.2515A>C	NP_001341835.1:p.Asn839His