Canonical Allele Identifier: CA16038742

Gene: APC

Linked Data

• ClinVar Variation Id: 1761661
• ClinVar RCV Id: RCV002419234
• dbSNP Id: rs761802169
• MyVariant Identifiers: chr5:g.112179306G>C (hg19) ; chr5:g.112843609G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843609G>C , CM000667.2:g.112843609G>C	GRCh38
NC_000005.9:g.112179306G>C , CM000667.1:g.112179306G>C	GRCh37
NC_000005.8:g.112207205G>C	NCBI36
NG_008481.4:g.156089G>C , LRG_130:g.156089G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8069G>C	ENSP00000473355.2:p.Gly2690Ala
ENST00000505350.2:c.*8021G>C	ENSP00000481752.1:n.*8021G>C
ENST00000507379.6:c.7961G>C	ENSP00000423224.2:p.Gly2654Ala
ENST00000509732.6:c.8015G>C	ENSP00000426541.2:p.Gly2672Ala
ENST00000512211.7:c.8015G>C	ENSP00000423828.3:p.Gly2672Ala
ENST00000257430.9:c.8015G>C MANE Select	ENSP00000257430.4:p.Gly2672Ala
ENST00000257430.8:c.8015G>C	ENSP00000257430.4:p.Gly2672Ala
ENST00000508376.6:c.8015G>C	ENSP00000427089.2:p.Gly2672Ala
ENST00000520401.1:c.231-13040G>C
NM_000038.5:c.8015G>C	NP_000029.2:p.Gly2672Ala
NM_001127510.2:c.8015G>C	NP_001120982.1:p.Gly2672Ala
NM_001127511.2:c.7961G>C	NP_001120983.2:p.Gly2654Ala
NM_001354895.1:c.8015G>C	NP_001341824.1:p.Gly2672Ala
NM_001354896.1:c.8069G>C	NP_001341825.1:p.Gly2690Ala
NM_001354897.1:c.8045G>C	NP_001341826.1:p.Gly2682Ala
NM_001354898.1:c.7940G>C	NP_001341827.1:p.Gly2647Ala
NM_001354899.1:c.7931G>C	NP_001341828.1:p.Gly2644Ala
NM_001354900.1:c.7892G>C	NP_001341829.1:p.Gly2631Ala
NM_001354901.1:c.7838G>C	NP_001341830.1:p.Gly2613Ala
NM_001354902.1:c.7742G>C	NP_001341831.1:p.Gly2581Ala
NM_001354903.1:c.7712G>C	NP_001341832.1:p.Gly2571Ala
NM_001354904.1:c.7637G>C	NP_001341833.1:p.Gly2546Ala
NM_001354905.1:c.7535G>C	NP_001341834.1:p.Gly2512Ala
NM_001354906.1:c.7166G>C	NP_001341835.1:p.Gly2389Ala
NM_000038.6:c.8015G>C MANE Select	NP_000029.2:p.Gly2672Ala
NM_001127510.3:c.8015G>C	NP_001120982.1:p.Gly2672Ala
NM_001127511.3:c.7961G>C	NP_001120983.2:p.Gly2654Ala
NM_001354895.2:c.8015G>C	NP_001341824.1:p.Gly2672Ala
NM_001354896.2:c.8069G>C	NP_001341825.1:p.Gly2690Ala
NM_001354897.2:c.8045G>C	NP_001341826.1:p.Gly2682Ala
NM_001354898.2:c.7940G>C	NP_001341827.1:p.Gly2647Ala
NM_001354899.2:c.7931G>C	NP_001341828.1:p.Gly2644Ala
NM_001354900.2:c.7892G>C	NP_001341829.1:p.Gly2631Ala
NM_001354901.2:c.7838G>C	NP_001341830.1:p.Gly2613Ala
NM_001354902.2:c.7742G>C	NP_001341831.1:p.Gly2581Ala
NM_001354903.2:c.7712G>C	NP_001341832.1:p.Gly2571Ala
NM_001354904.2:c.7637G>C	NP_001341833.1:p.Gly2546Ala
NM_001354905.2:c.7535G>C	NP_001341834.1:p.Gly2512Ala
NM_001354906.2:c.7166G>C	NP_001341835.1:p.Gly2389Ala