Canonical Allele Identifier: CA16038070

Gene: APC

Linked Data

• ClinVar Variation Id: 1760236
• ClinVar RCV Id: RCV002400612
• dbSNP Id: rs2149992270
• MyVariant Identifiers: chr5:g.112178997G>C (hg19) ; chr5:g.112843300G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843300G>C , CM000667.2:g.112843300G>C	GRCh38
NC_000005.9:g.112178997G>C , CM000667.1:g.112178997G>C	GRCh37
NC_000005.8:g.112206896G>C	NCBI36
NG_008481.4:g.155780G>C , LRG_130:g.155780G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7760G>C	ENSP00000473355.2:p.Ser2587Thr
ENST00000505350.2:c.*7712G>C	ENSP00000481752.1:n.*7712G>C
ENST00000507379.6:c.7652G>C	ENSP00000423224.2:p.Ser2551Thr
ENST00000509732.6:c.7706G>C	ENSP00000426541.2:p.Ser2569Thr
ENST00000512211.7:c.7706G>C	ENSP00000423828.3:p.Ser2569Thr
ENST00000257430.9:c.7706G>C MANE Select	ENSP00000257430.4:p.Ser2569Thr
ENST00000257430.8:c.7706G>C	ENSP00000257430.4:p.Ser2569Thr
ENST00000508376.6:c.7706G>C	ENSP00000427089.2:p.Ser2569Thr
ENST00000520401.1:c.231-13349G>C
NM_000038.5:c.7706G>C	NP_000029.2:p.Ser2569Thr
NM_001127510.2:c.7706G>C	NP_001120982.1:p.Ser2569Thr
NM_001127511.2:c.7652G>C	NP_001120983.2:p.Ser2551Thr
NM_001354895.1:c.7706G>C	NP_001341824.1:p.Ser2569Thr
NM_001354896.1:c.7760G>C	NP_001341825.1:p.Ser2587Thr
NM_001354897.1:c.7736G>C	NP_001341826.1:p.Ser2579Thr
NM_001354898.1:c.7631G>C	NP_001341827.1:p.Ser2544Thr
NM_001354899.1:c.7622G>C	NP_001341828.1:p.Ser2541Thr
NM_001354900.1:c.7583G>C	NP_001341829.1:p.Ser2528Thr
NM_001354901.1:c.7529G>C	NP_001341830.1:p.Ser2510Thr
NM_001354902.1:c.7433G>C	NP_001341831.1:p.Ser2478Thr
NM_001354903.1:c.7403G>C	NP_001341832.1:p.Ser2468Thr
NM_001354904.1:c.7328G>C	NP_001341833.1:p.Ser2443Thr
NM_001354905.1:c.7226G>C	NP_001341834.1:p.Ser2409Thr
NM_001354906.1:c.6857G>C	NP_001341835.1:p.Ser2286Thr
NM_000038.6:c.7706G>C MANE Select	NP_000029.2:p.Ser2569Thr
NM_001127510.3:c.7706G>C	NP_001120982.1:p.Ser2569Thr
NM_001127511.3:c.7652G>C	NP_001120983.2:p.Ser2551Thr
NM_001354895.2:c.7706G>C	NP_001341824.1:p.Ser2569Thr
NM_001354896.2:c.7760G>C	NP_001341825.1:p.Ser2587Thr
NM_001354897.2:c.7736G>C	NP_001341826.1:p.Ser2579Thr
NM_001354898.2:c.7631G>C	NP_001341827.1:p.Ser2544Thr
NM_001354899.2:c.7622G>C	NP_001341828.1:p.Ser2541Thr
NM_001354900.2:c.7583G>C	NP_001341829.1:p.Ser2528Thr
NM_001354901.2:c.7529G>C	NP_001341830.1:p.Ser2510Thr
NM_001354902.2:c.7433G>C	NP_001341831.1:p.Ser2478Thr
NM_001354903.2:c.7403G>C	NP_001341832.1:p.Ser2468Thr
NM_001354904.2:c.7328G>C	NP_001341833.1:p.Ser2443Thr
NM_001354905.2:c.7226G>C	NP_001341834.1:p.Ser2409Thr
NM_001354906.2:c.6857G>C	NP_001341835.1:p.Ser2286Thr