Canonical Allele Identifier: CA10578444

Gene: APC

Linked Data

• ClinVar Variation Id: 230961
• ClinVar RCV Id: RCV000214829 ; RCV000758745 ; RCV003491971 ; RCV003765411 ; RCV003997871
• dbSNP Id: rs33941929
• gnomAD v2: 5-112178786-G-C
• gnomAD v3: 5-112843089-G-C
• gnomAD v4: 5-112843089-G-C
• MyVariant Identifiers: chr5:g.112178786G>C (hg19) ; chr5:g.112843089G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843089G>C , CM000667.2:g.112843089G>C	GRCh38
NC_000005.9:g.112178786G>C , CM000667.1:g.112178786G>C	GRCh37
NC_000005.8:g.112206685G>C	NCBI36
NG_008481.4:g.155569G>C , LRG_130:g.155569G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7549G>C	ENSP00000473355.2:p.Val2517Leu
ENST00000505350.2:c.*7501G>C	ENSP00000481752.1:n.*7501G>C
ENST00000507379.6:c.7441G>C	ENSP00000423224.2:p.Val2481Leu
ENST00000509732.6:c.7495G>C	ENSP00000426541.2:p.Val2499Leu
ENST00000512211.7:c.7495G>C	ENSP00000423828.3:p.Val2499Leu
ENST00000257430.9:c.7495G>C MANE Select	ENSP00000257430.4:p.Val2499Leu
ENST00000257430.8:c.7495G>C	ENSP00000257430.4:p.Val2499Leu
ENST00000508376.6:c.7495G>C	ENSP00000427089.2:p.Val2499Leu
ENST00000520401.1:c.231-13560G>C
NM_000038.5:c.7495G>C	NP_000029.2:p.Val2499Leu
NM_001127510.2:c.7495G>C	NP_001120982.1:p.Val2499Leu
NM_001127511.2:c.7441G>C	NP_001120983.2:p.Val2481Leu
NM_001354895.1:c.7495G>C	NP_001341824.1:p.Val2499Leu
NM_001354896.1:c.7549G>C	NP_001341825.1:p.Val2517Leu
NM_001354897.1:c.7525G>C	NP_001341826.1:p.Val2509Leu
NM_001354898.1:c.7420G>C	NP_001341827.1:p.Val2474Leu
NM_001354899.1:c.7411G>C	NP_001341828.1:p.Val2471Leu
NM_001354900.1:c.7372G>C	NP_001341829.1:p.Val2458Leu
NM_001354901.1:c.7318G>C	NP_001341830.1:p.Val2440Leu
NM_001354902.1:c.7222G>C	NP_001341831.1:p.Val2408Leu
NM_001354903.1:c.7192G>C	NP_001341832.1:p.Val2398Leu
NM_001354904.1:c.7117G>C	NP_001341833.1:p.Val2373Leu
NM_001354905.1:c.7015G>C	NP_001341834.1:p.Val2339Leu
NM_001354906.1:c.6646G>C	NP_001341835.1:p.Val2216Leu
NM_000038.6:c.7495G>C MANE Select	NP_000029.2:p.Val2499Leu
NM_001127510.3:c.7495G>C	NP_001120982.1:p.Val2499Leu
NM_001127511.3:c.7441G>C	NP_001120983.2:p.Val2481Leu
NM_001354895.2:c.7495G>C	NP_001341824.1:p.Val2499Leu
NM_001354896.2:c.7549G>C	NP_001341825.1:p.Val2517Leu
NM_001354897.2:c.7525G>C	NP_001341826.1:p.Val2509Leu
NM_001354898.2:c.7420G>C	NP_001341827.1:p.Val2474Leu
NM_001354899.2:c.7411G>C	NP_001341828.1:p.Val2471Leu
NM_001354900.2:c.7372G>C	NP_001341829.1:p.Val2458Leu
NM_001354901.2:c.7318G>C	NP_001341830.1:p.Val2440Leu
NM_001354902.2:c.7222G>C	NP_001341831.1:p.Val2408Leu
NM_001354903.2:c.7192G>C	NP_001341832.1:p.Val2398Leu
NM_001354904.2:c.7117G>C	NP_001341833.1:p.Val2373Leu
NM_001354905.2:c.7015G>C	NP_001341834.1:p.Val2339Leu
NM_001354906.2:c.6646G>C	NP_001341835.1:p.Val2216Leu