Canonical Allele Identifier: CA445758846

Gene: APC

Linked Data

• ClinVar Variation Id: 1780400
• ClinVar RCV Id: RCV002407915
• MyVariant Identifiers: chr5:g.112170704T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835007T>G , CM000667.2:g.112835007T>G	GRCh38
NC_000005.9:g.112170704T>G , CM000667.1:g.112170704T>G	GRCh37
NC_000005.8:g.112198603T>G	NCBI36
NG_008481.4:g.147487T>G , LRG_130:g.147487T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1465T>G	ENSP00000484935.2:p.Ter489Gly
ENST00000504915.3:c.1854T>G	ENSP00000473355.2:p.Thr618=
ENST00000505350.2:c.*1806T>G	ENSP00000481752.1:n.*1806T>G
ENST00000507379.6:c.1746T>G	ENSP00000423224.2:p.Thr582=
ENST00000509732.6:c.1800T>G	ENSP00000426541.2:p.Thr600=
ENST00000512211.7:c.1800T>G	ENSP00000423828.3:p.Thr600=
ENST00000257430.9:c.1800T>G MANE Select	ENSP00000257430.4:p.Thr600=
ENST00000257430.8:c.1800T>G	ENSP00000257430.4:p.Thr600=
ENST00000502371.2:c.153T>G
ENST00000504915.2:c.489T>G	ENSP00000473355.1:p.Thr163=
ENST00000507379.5:c.1746T>G	ENSP00000423224.1:p.Thr582=
ENST00000508376.6:c.1800T>G	ENSP00000427089.2:p.Thr600=
ENST00000508624.5:c.*1122T>G	ENSP00000424265.1:n.*1122T>G
ENST00000512211.6:c.1800T>G	ENSP00000423828.2:p.Thr600=
ENST00000520401.1:c.230+6035T>G
NM_000038.5:c.1800T>G	NP_000029.2:p.Thr600=
NM_001127510.2:c.1800T>G	NP_001120982.1:p.Thr600=
NM_001127511.2:c.1746T>G	NP_001120983.2:p.Thr582=
NM_001354895.1:c.1800T>G	NP_001341824.1:p.Thr600=
NM_001354896.1:c.1854T>G	NP_001341825.1:p.Thr618=
NM_001354897.1:c.1830T>G	NP_001341826.1:p.Thr610=
NM_001354898.1:c.1725T>G	NP_001341827.1:p.Thr575=
NM_001354899.1:c.1716T>G	NP_001341828.1:p.Thr572=
NM_001354900.1:c.1677T>G	NP_001341829.1:p.Thr559=
NM_001354901.1:c.1623T>G	NP_001341830.1:p.Thr541=
NM_001354902.1:c.1527T>G	NP_001341831.1:p.Thr509=
NM_001354903.1:c.1497T>G	NP_001341832.1:p.Thr499=
NM_001354904.1:c.1422T>G	NP_001341833.1:p.Thr474=
NM_001354905.1:c.1320T>G	NP_001341834.1:p.Thr440=
NM_001354906.1:c.951T>G	NP_001341835.1:p.Thr317=
NM_000038.6:c.1800T>G MANE Select	NP_000029.2:p.Thr600=
NM_001127510.3:c.1800T>G	NP_001120982.1:p.Thr600=
NM_001127511.3:c.1746T>G	NP_001120983.2:p.Thr582=
NM_001354895.2:c.1800T>G	NP_001341824.1:p.Thr600=
NM_001354896.2:c.1854T>G	NP_001341825.1:p.Thr618=
NM_001354897.2:c.1830T>G	NP_001341826.1:p.Thr610=
NM_001354898.2:c.1725T>G	NP_001341827.1:p.Thr575=
NM_001354899.2:c.1716T>G	NP_001341828.1:p.Thr572=
NM_001354900.2:c.1677T>G	NP_001341829.1:p.Thr559=
NM_001354901.2:c.1623T>G	NP_001341830.1:p.Thr541=
NM_001354902.2:c.1527T>G	NP_001341831.1:p.Thr509=
NM_001354903.2:c.1497T>G	NP_001341832.1:p.Thr499=
NM_001354904.2:c.1422T>G	NP_001341833.1:p.Thr474=
NM_001354905.2:c.1320T>G	NP_001341834.1:p.Thr440=
NM_001354906.2:c.951T>G	NP_001341835.1:p.Thr317=