Canonical Allele Identifier: CA16032440

Gene: APC

Linked Data

• ClinVar Variation Id: 1745225
• ClinVar RCV Id: RCV002335894
• dbSNP Id: rs2149931526
• MyVariant Identifiers: chr5:g.112176372G>A (hg19) ; chr5:g.112840675G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840675G>A , CM000667.2:g.112840675G>A	GRCh38
NC_000005.9:g.112176372G>A , CM000667.1:g.112176372G>A	GRCh37
NC_000005.8:g.112204271G>A	NCBI36
NG_008481.4:g.153155G>A , LRG_130:g.153155G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5135G>A	ENSP00000473355.2:p.Gly1712Asp
ENST00000505350.2:c.*5087G>A	ENSP00000481752.1:n.*5087G>A
ENST00000507379.6:c.5027G>A	ENSP00000423224.2:p.Gly1676Asp
ENST00000509732.6:c.5081G>A	ENSP00000426541.2:p.Gly1694Asp
ENST00000512211.7:c.5081G>A	ENSP00000423828.3:p.Gly1694Asp
ENST00000257430.9:c.5081G>A MANE Select	ENSP00000257430.4:p.Gly1694Asp
ENST00000257430.8:c.5081G>A	ENSP00000257430.4:p.Gly1694Asp
ENST00000508376.6:c.5081G>A	ENSP00000427089.2:p.Gly1694Asp
ENST00000508624.5:c.*4403G>A	ENSP00000424265.1:n.*4403G>A
ENST00000520401.1:c.230+11703G>A
NM_000038.5:c.5081G>A	NP_000029.2:p.Gly1694Asp
NM_001127510.2:c.5081G>A	NP_001120982.1:p.Gly1694Asp
NM_001127511.2:c.5027G>A	NP_001120983.2:p.Gly1676Asp
NM_001354895.1:c.5081G>A	NP_001341824.1:p.Gly1694Asp
NM_001354896.1:c.5135G>A	NP_001341825.1:p.Gly1712Asp
NM_001354897.1:c.5111G>A	NP_001341826.1:p.Gly1704Asp
NM_001354898.1:c.5006G>A	NP_001341827.1:p.Gly1669Asp
NM_001354899.1:c.4997G>A	NP_001341828.1:p.Gly1666Asp
NM_001354900.1:c.4958G>A	NP_001341829.1:p.Gly1653Asp
NM_001354901.1:c.4904G>A	NP_001341830.1:p.Gly1635Asp
NM_001354902.1:c.4808G>A	NP_001341831.1:p.Gly1603Asp
NM_001354903.1:c.4778G>A	NP_001341832.1:p.Gly1593Asp
NM_001354904.1:c.4703G>A	NP_001341833.1:p.Gly1568Asp
NM_001354905.1:c.4601G>A	NP_001341834.1:p.Gly1534Asp
NM_001354906.1:c.4232G>A	NP_001341835.1:p.Gly1411Asp
NM_000038.6:c.5081G>A MANE Select	NP_000029.2:p.Gly1694Asp
NM_001127510.3:c.5081G>A	NP_001120982.1:p.Gly1694Asp
NM_001127511.3:c.5027G>A	NP_001120983.2:p.Gly1676Asp
NM_001354895.2:c.5081G>A	NP_001341824.1:p.Gly1694Asp
NM_001354896.2:c.5135G>A	NP_001341825.1:p.Gly1712Asp
NM_001354897.2:c.5111G>A	NP_001341826.1:p.Gly1704Asp
NM_001354898.2:c.5006G>A	NP_001341827.1:p.Gly1669Asp
NM_001354899.2:c.4997G>A	NP_001341828.1:p.Gly1666Asp
NM_001354900.2:c.4958G>A	NP_001341829.1:p.Gly1653Asp
NM_001354901.2:c.4904G>A	NP_001341830.1:p.Gly1635Asp
NM_001354902.2:c.4808G>A	NP_001341831.1:p.Gly1603Asp
NM_001354903.2:c.4778G>A	NP_001341832.1:p.Gly1593Asp
NM_001354904.2:c.4703G>A	NP_001341833.1:p.Gly1568Asp
NM_001354905.2:c.4601G>A	NP_001341834.1:p.Gly1534Asp
NM_001354906.2:c.4232G>A	NP_001341835.1:p.Gly1411Asp