Canonical Allele Identifier: CA014434

Gene: APC

Linked Data

• ClinVar Variation Id: 184361
• ClinVar RCV Id: RCV000163598 ; RCV001762361 ; RCV003765014 ; RCV003995263
• dbSNP Id: rs786201421
• gnomAD v4: 5-112843802-T-G
• MyVariant Identifiers: chr5:g.112179499T>G (hg19) ; chr5:g.112843802T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843802T>G , CM000667.2:g.112843802T>G	GRCh38
NC_000005.9:g.112179499T>G , CM000667.1:g.112179499T>G	GRCh37
NC_000005.8:g.112207398T>G	NCBI36
NG_008481.4:g.156282T>G , LRG_130:g.156282T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8262T>G	ENSP00000473355.2:p.Thr2754=
ENST00000505350.2:c.*8214T>G	ENSP00000481752.1:n.*8214T>G
ENST00000507379.6:c.8154T>G	ENSP00000423224.2:p.Thr2718=
ENST00000509732.6:c.8208T>G	ENSP00000426541.2:p.Thr2736=
ENST00000512211.7:c.8208T>G	ENSP00000423828.3:p.Thr2736=
ENST00000257430.9:c.8208T>G MANE Select	ENSP00000257430.4:p.Thr2736=
ENST00000257430.8:c.8208T>G	ENSP00000257430.4:p.Thr2736=
ENST00000508376.6:c.8208T>G	ENSP00000427089.2:p.Thr2736=
ENST00000520401.1:c.231-12847T>G
NM_000038.5:c.8208T>G	NP_000029.2:p.Thr2736=
NM_001127510.2:c.8208T>G	NP_001120982.1:p.Thr2736=
NM_001127511.2:c.8154T>G	NP_001120983.2:p.Thr2718=
NM_001354895.1:c.8208T>G	NP_001341824.1:p.Thr2736=
NM_001354896.1:c.8262T>G	NP_001341825.1:p.Thr2754=
NM_001354897.1:c.8238T>G	NP_001341826.1:p.Thr2746=
NM_001354898.1:c.8133T>G	NP_001341827.1:p.Thr2711=
NM_001354899.1:c.8124T>G	NP_001341828.1:p.Thr2708=
NM_001354900.1:c.8085T>G	NP_001341829.1:p.Thr2695=
NM_001354901.1:c.8031T>G	NP_001341830.1:p.Thr2677=
NM_001354902.1:c.7935T>G	NP_001341831.1:p.Thr2645=
NM_001354903.1:c.7905T>G	NP_001341832.1:p.Thr2635=
NM_001354904.1:c.7830T>G	NP_001341833.1:p.Thr2610=
NM_001354905.1:c.7728T>G	NP_001341834.1:p.Thr2576=
NM_001354906.1:c.7359T>G	NP_001341835.1:p.Thr2453=
NM_000038.6:c.8208T>G MANE Select	NP_000029.2:p.Thr2736=
NM_001127510.3:c.8208T>G	NP_001120982.1:p.Thr2736=
NM_001127511.3:c.8154T>G	NP_001120983.2:p.Thr2718=
NM_001354895.2:c.8208T>G	NP_001341824.1:p.Thr2736=
NM_001354896.2:c.8262T>G	NP_001341825.1:p.Thr2754=
NM_001354897.2:c.8238T>G	NP_001341826.1:p.Thr2746=
NM_001354898.2:c.8133T>G	NP_001341827.1:p.Thr2711=
NM_001354899.2:c.8124T>G	NP_001341828.1:p.Thr2708=
NM_001354900.2:c.8085T>G	NP_001341829.1:p.Thr2695=
NM_001354901.2:c.8031T>G	NP_001341830.1:p.Thr2677=
NM_001354902.2:c.7935T>G	NP_001341831.1:p.Thr2645=
NM_001354903.2:c.7905T>G	NP_001341832.1:p.Thr2635=
NM_001354904.2:c.7830T>G	NP_001341833.1:p.Thr2610=
NM_001354905.2:c.7728T>G	NP_001341834.1:p.Thr2576=
NM_001354906.2:c.7359T>G	NP_001341835.1:p.Thr2453=