Canonical Allele Identifier: CA16038341

Gene: APC

Linked Data

• ClinVar Variation Id: 957922
• ClinVar RCV Id: RCV003650807
• dbSNP Id: rs1561618546
• COSMIC: COSM5346632
• MyVariant Identifiers: chr5:g.112179120G>C (hg19) ; chr5:g.112843423G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843423G>C , CM000667.2:g.112843423G>C	GRCh38
NC_000005.9:g.112179120G>C , CM000667.1:g.112179120G>C	GRCh37
NC_000005.8:g.112207019G>C	NCBI36
NG_008481.4:g.155903G>C , LRG_130:g.155903G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7883G>C	ENSP00000473355.2:p.Gly2628Ala
ENST00000505350.2:c.*7835G>C	ENSP00000481752.1:n.*7835G>C
ENST00000507379.6:c.7775G>C	ENSP00000423224.2:p.Gly2592Ala
ENST00000509732.6:c.7829G>C	ENSP00000426541.2:p.Gly2610Ala
ENST00000512211.7:c.7829G>C	ENSP00000423828.3:p.Gly2610Ala
ENST00000257430.9:c.7829G>C MANE Select	ENSP00000257430.4:p.Gly2610Ala
ENST00000257430.8:c.7829G>C	ENSP00000257430.4:p.Gly2610Ala
ENST00000508376.6:c.7829G>C	ENSP00000427089.2:p.Gly2610Ala
ENST00000520401.1:c.231-13226G>C
NM_000038.5:c.7829G>C	NP_000029.2:p.Gly2610Ala
NM_001127510.2:c.7829G>C	NP_001120982.1:p.Gly2610Ala
NM_001127511.2:c.7775G>C	NP_001120983.2:p.Gly2592Ala
NM_001354895.1:c.7829G>C	NP_001341824.1:p.Gly2610Ala
NM_001354896.1:c.7883G>C	NP_001341825.1:p.Gly2628Ala
NM_001354897.1:c.7859G>C	NP_001341826.1:p.Gly2620Ala
NM_001354898.1:c.7754G>C	NP_001341827.1:p.Gly2585Ala
NM_001354899.1:c.7745G>C	NP_001341828.1:p.Gly2582Ala
NM_001354900.1:c.7706G>C	NP_001341829.1:p.Gly2569Ala
NM_001354901.1:c.7652G>C	NP_001341830.1:p.Gly2551Ala
NM_001354902.1:c.7556G>C	NP_001341831.1:p.Gly2519Ala
NM_001354903.1:c.7526G>C	NP_001341832.1:p.Gly2509Ala
NM_001354904.1:c.7451G>C	NP_001341833.1:p.Gly2484Ala
NM_001354905.1:c.7349G>C	NP_001341834.1:p.Gly2450Ala
NM_001354906.1:c.6980G>C	NP_001341835.1:p.Gly2327Ala
NM_000038.6:c.7829G>C MANE Select	NP_000029.2:p.Gly2610Ala
NM_001127510.3:c.7829G>C	NP_001120982.1:p.Gly2610Ala
NM_001127511.3:c.7775G>C	NP_001120983.2:p.Gly2592Ala
NM_001354895.2:c.7829G>C	NP_001341824.1:p.Gly2610Ala
NM_001354896.2:c.7883G>C	NP_001341825.1:p.Gly2628Ala
NM_001354897.2:c.7859G>C	NP_001341826.1:p.Gly2620Ala
NM_001354898.2:c.7754G>C	NP_001341827.1:p.Gly2585Ala
NM_001354899.2:c.7745G>C	NP_001341828.1:p.Gly2582Ala
NM_001354900.2:c.7706G>C	NP_001341829.1:p.Gly2569Ala
NM_001354901.2:c.7652G>C	NP_001341830.1:p.Gly2551Ala
NM_001354902.2:c.7556G>C	NP_001341831.1:p.Gly2519Ala
NM_001354903.2:c.7526G>C	NP_001341832.1:p.Gly2509Ala
NM_001354904.2:c.7451G>C	NP_001341833.1:p.Gly2484Ala
NM_001354905.2:c.7349G>C	NP_001341834.1:p.Gly2450Ala
NM_001354906.2:c.6980G>C	NP_001341835.1:p.Gly2327Ala