Canonical Allele Identifier: CA16605154

Gene: APC

Linked Data

• ClinVar Variation Id: 391500
• ClinVar RCV Id: RCV000443163 ; RCV000775972 ; RCV004022487 ; RCV003535727
• dbSNP Id: rs938418357
• gnomAD v3: 5-112838621-T-C
• gnomAD v4: 5-112838621-T-C
• MyVariant Identifiers: chr5:g.112174318T>C (hg19) ; chr5:g.112838621T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838621T>C , CM000667.2:g.112838621T>C	GRCh38
NC_000005.9:g.112174318T>C , CM000667.1:g.112174318T>C	GRCh37
NC_000005.8:g.112202217T>C	NCBI36
NG_008481.4:g.151101T>C , LRG_130:g.151101T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2692T>C	ENSP00000484935.2:n.2692T>C
ENST00000504915.3:c.3081T>C	ENSP00000473355.2:p.His1027=
ENST00000505350.2:c.*3033T>C	ENSP00000481752.1:n.*3033T>C
ENST00000507379.6:c.2973T>C	ENSP00000423224.2:p.His991=
ENST00000509732.6:c.3027T>C	ENSP00000426541.2:p.His1009=
ENST00000512211.7:c.3027T>C	ENSP00000423828.3:p.His1009=
ENST00000257430.9:c.3027T>C MANE Select	ENSP00000257430.4:p.His1009=
ENST00000257430.8:c.3027T>C	ENSP00000257430.4:p.His1009=
ENST00000502371.2:c.1380T>C
ENST00000507379.5:c.2973T>C	ENSP00000423224.1:p.His991=
ENST00000508376.6:c.3027T>C	ENSP00000427089.2:p.His1009=
ENST00000508624.5:c.*2349T>C	ENSP00000424265.1:n.*2349T>C
ENST00000512211.6:c.3027T>C	ENSP00000423828.2:p.His1009=
ENST00000520401.1:c.230+9649T>C
NM_000038.5:c.3027T>C	NP_000029.2:p.His1009=
NM_001127510.2:c.3027T>C	NP_001120982.1:p.His1009=
NM_001127511.2:c.2973T>C	NP_001120983.2:p.His991=
NM_001354895.1:c.3027T>C	NP_001341824.1:p.His1009=
NM_001354896.1:c.3081T>C	NP_001341825.1:p.His1027=
NM_001354897.1:c.3057T>C	NP_001341826.1:p.His1019=
NM_001354898.1:c.2952T>C	NP_001341827.1:p.His984=
NM_001354899.1:c.2943T>C	NP_001341828.1:p.His981=
NM_001354900.1:c.2904T>C	NP_001341829.1:p.His968=
NM_001354901.1:c.2850T>C	NP_001341830.1:p.His950=
NM_001354902.1:c.2754T>C	NP_001341831.1:p.His918=
NM_001354903.1:c.2724T>C	NP_001341832.1:p.His908=
NM_001354904.1:c.2649T>C	NP_001341833.1:p.His883=
NM_001354905.1:c.2547T>C	NP_001341834.1:p.His849=
NM_001354906.1:c.2178T>C	NP_001341835.1:p.His726=
NM_000038.6:c.3027T>C MANE Select	NP_000029.2:p.His1009=
NM_001127510.3:c.3027T>C	NP_001120982.1:p.His1009=
NM_001127511.3:c.2973T>C	NP_001120983.2:p.His991=
NM_001354895.2:c.3027T>C	NP_001341824.1:p.His1009=
NM_001354896.2:c.3081T>C	NP_001341825.1:p.His1027=
NM_001354897.2:c.3057T>C	NP_001341826.1:p.His1019=
NM_001354898.2:c.2952T>C	NP_001341827.1:p.His984=
NM_001354899.2:c.2943T>C	NP_001341828.1:p.His981=
NM_001354900.2:c.2904T>C	NP_001341829.1:p.His968=
NM_001354901.2:c.2850T>C	NP_001341830.1:p.His950=
NM_001354902.2:c.2754T>C	NP_001341831.1:p.His918=
NM_001354903.2:c.2724T>C	NP_001341832.1:p.His908=
NM_001354904.2:c.2649T>C	NP_001341833.1:p.His883=
NM_001354905.2:c.2547T>C	NP_001341834.1:p.His849=
NM_001354906.2:c.2178T>C	NP_001341835.1:p.His726=