Canonical Allele Identifier: CA16037728

Gene: APC

Linked Data

• ClinVar Variation Id: 827111
• ClinVar RCV Id: RCV001026546 ; RCV003744722
• dbSNP Id: rs1580683905
• MyVariant Identifiers: chr5:g.112178835T>G (hg19) ; chr5:g.112843138T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843138T>G , CM000667.2:g.112843138T>G	GRCh38
NC_000005.9:g.112178835T>G , CM000667.1:g.112178835T>G	GRCh37
NC_000005.8:g.112206734T>G	NCBI36
NG_008481.4:g.155618T>G , LRG_130:g.155618T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7598T>G	ENSP00000473355.2:p.Ile2533Arg
ENST00000505350.2:c.*7550T>G	ENSP00000481752.1:n.*7550T>G
ENST00000507379.6:c.7490T>G	ENSP00000423224.2:p.Ile2497Arg
ENST00000509732.6:c.7544T>G	ENSP00000426541.2:p.Ile2515Arg
ENST00000512211.7:c.7544T>G	ENSP00000423828.3:p.Ile2515Arg
ENST00000257430.9:c.7544T>G MANE Select	ENSP00000257430.4:p.Ile2515Arg
ENST00000257430.8:c.7544T>G	ENSP00000257430.4:p.Ile2515Arg
ENST00000508376.6:c.7544T>G	ENSP00000427089.2:p.Ile2515Arg
ENST00000520401.1:c.231-13511T>G
NM_000038.5:c.7544T>G	NP_000029.2:p.Ile2515Arg
NM_001127510.2:c.7544T>G	NP_001120982.1:p.Ile2515Arg
NM_001127511.2:c.7490T>G	NP_001120983.2:p.Ile2497Arg
NM_001354895.1:c.7544T>G	NP_001341824.1:p.Ile2515Arg
NM_001354896.1:c.7598T>G	NP_001341825.1:p.Ile2533Arg
NM_001354897.1:c.7574T>G	NP_001341826.1:p.Ile2525Arg
NM_001354898.1:c.7469T>G	NP_001341827.1:p.Ile2490Arg
NM_001354899.1:c.7460T>G	NP_001341828.1:p.Ile2487Arg
NM_001354900.1:c.7421T>G	NP_001341829.1:p.Ile2474Arg
NM_001354901.1:c.7367T>G	NP_001341830.1:p.Ile2456Arg
NM_001354902.1:c.7271T>G	NP_001341831.1:p.Ile2424Arg
NM_001354903.1:c.7241T>G	NP_001341832.1:p.Ile2414Arg
NM_001354904.1:c.7166T>G	NP_001341833.1:p.Ile2389Arg
NM_001354905.1:c.7064T>G	NP_001341834.1:p.Ile2355Arg
NM_001354906.1:c.6695T>G	NP_001341835.1:p.Ile2232Arg
NM_000038.6:c.7544T>G MANE Select	NP_000029.2:p.Ile2515Arg
NM_001127510.3:c.7544T>G	NP_001120982.1:p.Ile2515Arg
NM_001127511.3:c.7490T>G	NP_001120983.2:p.Ile2497Arg
NM_001354895.2:c.7544T>G	NP_001341824.1:p.Ile2515Arg
NM_001354896.2:c.7598T>G	NP_001341825.1:p.Ile2533Arg
NM_001354897.2:c.7574T>G	NP_001341826.1:p.Ile2525Arg
NM_001354898.2:c.7469T>G	NP_001341827.1:p.Ile2490Arg
NM_001354899.2:c.7460T>G	NP_001341828.1:p.Ile2487Arg
NM_001354900.2:c.7421T>G	NP_001341829.1:p.Ile2474Arg
NM_001354901.2:c.7367T>G	NP_001341830.1:p.Ile2456Arg
NM_001354902.2:c.7271T>G	NP_001341831.1:p.Ile2424Arg
NM_001354903.2:c.7241T>G	NP_001341832.1:p.Ile2414Arg
NM_001354904.2:c.7166T>G	NP_001341833.1:p.Ile2389Arg
NM_001354905.2:c.7064T>G	NP_001341834.1:p.Ile2355Arg
NM_001354906.2:c.6695T>G	NP_001341835.1:p.Ile2232Arg