Canonical Allele Identifier: CA012999

Gene: APC

Linked Data

• ClinVar Variation Id: 184494
• ClinVar RCV Id: RCV000163759 ; RCV003743610
• dbSNP Id: rs786201500
• MyVariant Identifiers: chr5:g.112178581T>C (hg19) ; chr5:g.112842884T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842884T>C , CM000667.2:g.112842884T>C	GRCh38
NC_000005.9:g.112178581T>C , CM000667.1:g.112178581T>C	GRCh37
NC_000005.8:g.112206480T>C	NCBI36
NG_008481.4:g.155364T>C , LRG_130:g.155364T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7344T>C	ENSP00000473355.2:p.Asp2448=
ENST00000505350.2:c.*7296T>C	ENSP00000481752.1:n.*7296T>C
ENST00000507379.6:c.7236T>C	ENSP00000423224.2:p.Asp2412=
ENST00000509732.6:c.7290T>C	ENSP00000426541.2:p.Asp2430=
ENST00000512211.7:c.7290T>C	ENSP00000423828.3:p.Asp2430=
ENST00000257430.9:c.7290T>C MANE Select	ENSP00000257430.4:p.Asp2430=
ENST00000257430.8:c.7290T>C	ENSP00000257430.4:p.Asp2430=
ENST00000508376.6:c.7290T>C	ENSP00000427089.2:p.Asp2430=
ENST00000520401.1:c.231-13765T>C
NM_000038.5:c.7290T>C	NP_000029.2:p.Asp2430=
NM_001127510.2:c.7290T>C	NP_001120982.1:p.Asp2430=
NM_001127511.2:c.7236T>C	NP_001120983.2:p.Asp2412=
NM_001354895.1:c.7290T>C	NP_001341824.1:p.Asp2430=
NM_001354896.1:c.7344T>C	NP_001341825.1:p.Asp2448=
NM_001354897.1:c.7320T>C	NP_001341826.1:p.Asp2440=
NM_001354898.1:c.7215T>C	NP_001341827.1:p.Asp2405=
NM_001354899.1:c.7206T>C	NP_001341828.1:p.Asp2402=
NM_001354900.1:c.7167T>C	NP_001341829.1:p.Asp2389=
NM_001354901.1:c.7113T>C	NP_001341830.1:p.Asp2371=
NM_001354902.1:c.7017T>C	NP_001341831.1:p.Asp2339=
NM_001354903.1:c.6987T>C	NP_001341832.1:p.Asp2329=
NM_001354904.1:c.6912T>C	NP_001341833.1:p.Asp2304=
NM_001354905.1:c.6810T>C	NP_001341834.1:p.Asp2270=
NM_001354906.1:c.6441T>C	NP_001341835.1:p.Asp2147=
NM_000038.6:c.7290T>C MANE Select	NP_000029.2:p.Asp2430=
NM_001127510.3:c.7290T>C	NP_001120982.1:p.Asp2430=
NM_001127511.3:c.7236T>C	NP_001120983.2:p.Asp2412=
NM_001354895.2:c.7290T>C	NP_001341824.1:p.Asp2430=
NM_001354896.2:c.7344T>C	NP_001341825.1:p.Asp2448=
NM_001354897.2:c.7320T>C	NP_001341826.1:p.Asp2440=
NM_001354898.2:c.7215T>C	NP_001341827.1:p.Asp2405=
NM_001354899.2:c.7206T>C	NP_001341828.1:p.Asp2402=
NM_001354900.2:c.7167T>C	NP_001341829.1:p.Asp2389=
NM_001354901.2:c.7113T>C	NP_001341830.1:p.Asp2371=
NM_001354902.2:c.7017T>C	NP_001341831.1:p.Asp2339=
NM_001354903.2:c.6987T>C	NP_001341832.1:p.Asp2329=
NM_001354904.2:c.6912T>C	NP_001341833.1:p.Asp2304=
NM_001354905.2:c.6810T>C	NP_001341834.1:p.Asp2270=
NM_001354906.2:c.6441T>C	NP_001341835.1:p.Asp2147=