Canonical Allele Identifier: CA16038374

Gene: APC

Linked Data

• ClinVar Variation Id: 470113
• ClinVar RCV Id: RCV000528094 ; RCV001026869 ; RCV003478168 ; RCV003742800 ; RCV003999436
• dbSNP Id: rs1317953419
• gnomAD v4: 5-112843438-T-C
• MyVariant Identifiers: chr5:g.112179135T>C (hg19) ; chr5:g.112843438T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843438T>C , CM000667.2:g.112843438T>C	GRCh38
NC_000005.9:g.112179135T>C , CM000667.1:g.112179135T>C	GRCh37
NC_000005.8:g.112207034T>C	NCBI36
NG_008481.4:g.155918T>C , LRG_130:g.155918T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7898T>C	ENSP00000473355.2:p.Ile2633Thr
ENST00000505350.2:c.*7850T>C	ENSP00000481752.1:n.*7850T>C
ENST00000507379.6:c.7790T>C	ENSP00000423224.2:p.Ile2597Thr
ENST00000509732.6:c.7844T>C	ENSP00000426541.2:p.Ile2615Thr
ENST00000512211.7:c.7844T>C	ENSP00000423828.3:p.Ile2615Thr
ENST00000257430.9:c.7844T>C MANE Select	ENSP00000257430.4:p.Ile2615Thr
ENST00000257430.8:c.7844T>C	ENSP00000257430.4:p.Ile2615Thr
ENST00000508376.6:c.7844T>C	ENSP00000427089.2:p.Ile2615Thr
ENST00000520401.1:c.231-13211T>C
NM_000038.5:c.7844T>C	NP_000029.2:p.Ile2615Thr
NM_001127510.2:c.7844T>C	NP_001120982.1:p.Ile2615Thr
NM_001127511.2:c.7790T>C	NP_001120983.2:p.Ile2597Thr
NM_001354895.1:c.7844T>C	NP_001341824.1:p.Ile2615Thr
NM_001354896.1:c.7898T>C	NP_001341825.1:p.Ile2633Thr
NM_001354897.1:c.7874T>C	NP_001341826.1:p.Ile2625Thr
NM_001354898.1:c.7769T>C	NP_001341827.1:p.Ile2590Thr
NM_001354899.1:c.7760T>C	NP_001341828.1:p.Ile2587Thr
NM_001354900.1:c.7721T>C	NP_001341829.1:p.Ile2574Thr
NM_001354901.1:c.7667T>C	NP_001341830.1:p.Ile2556Thr
NM_001354902.1:c.7571T>C	NP_001341831.1:p.Ile2524Thr
NM_001354903.1:c.7541T>C	NP_001341832.1:p.Ile2514Thr
NM_001354904.1:c.7466T>C	NP_001341833.1:p.Ile2489Thr
NM_001354905.1:c.7364T>C	NP_001341834.1:p.Ile2455Thr
NM_001354906.1:c.6995T>C	NP_001341835.1:p.Ile2332Thr
NM_000038.6:c.7844T>C MANE Select	NP_000029.2:p.Ile2615Thr
NM_001127510.3:c.7844T>C	NP_001120982.1:p.Ile2615Thr
NM_001127511.3:c.7790T>C	NP_001120983.2:p.Ile2597Thr
NM_001354895.2:c.7844T>C	NP_001341824.1:p.Ile2615Thr
NM_001354896.2:c.7898T>C	NP_001341825.1:p.Ile2633Thr
NM_001354897.2:c.7874T>C	NP_001341826.1:p.Ile2625Thr
NM_001354898.2:c.7769T>C	NP_001341827.1:p.Ile2590Thr
NM_001354899.2:c.7760T>C	NP_001341828.1:p.Ile2587Thr
NM_001354900.2:c.7721T>C	NP_001341829.1:p.Ile2574Thr
NM_001354901.2:c.7667T>C	NP_001341830.1:p.Ile2556Thr
NM_001354902.2:c.7571T>C	NP_001341831.1:p.Ile2524Thr
NM_001354903.2:c.7541T>C	NP_001341832.1:p.Ile2514Thr
NM_001354904.2:c.7466T>C	NP_001341833.1:p.Ile2489Thr
NM_001354905.2:c.7364T>C	NP_001341834.1:p.Ile2455Thr
NM_001354906.2:c.6995T>C	NP_001341835.1:p.Ile2332Thr