Canonical Allele Identifier: CA16032513

Gene: APC

Linked Data

• ClinVar Variation Id: 924017
• ClinVar RCV Id: RCV001185132 ; RCV003650631
• dbSNP Id: rs1765850622
• MyVariant Identifiers: chr5:g.112176407T>C (hg19) ; chr5:g.112840710T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840710T>C , CM000667.2:g.112840710T>C	GRCh38
NC_000005.9:g.112176407T>C , CM000667.1:g.112176407T>C	GRCh37
NC_000005.8:g.112204306T>C	NCBI36
NG_008481.4:g.153190T>C , LRG_130:g.153190T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5170T>C	ENSP00000473355.2:p.Ser1724Pro
ENST00000505350.2:c.*5122T>C	ENSP00000481752.1:n.*5122T>C
ENST00000507379.6:c.5062T>C	ENSP00000423224.2:p.Ser1688Pro
ENST00000509732.6:c.5116T>C	ENSP00000426541.2:p.Ser1706Pro
ENST00000512211.7:c.5116T>C	ENSP00000423828.3:p.Ser1706Pro
ENST00000257430.9:c.5116T>C MANE Select	ENSP00000257430.4:p.Ser1706Pro
ENST00000257430.8:c.5116T>C	ENSP00000257430.4:p.Ser1706Pro
ENST00000508376.6:c.5116T>C	ENSP00000427089.2:p.Ser1706Pro
ENST00000508624.5:c.*4438T>C	ENSP00000424265.1:n.*4438T>C
ENST00000520401.1:c.230+11738T>C
NM_000038.5:c.5116T>C	NP_000029.2:p.Ser1706Pro
NM_001127510.2:c.5116T>C	NP_001120982.1:p.Ser1706Pro
NM_001127511.2:c.5062T>C	NP_001120983.2:p.Ser1688Pro
NM_001354895.1:c.5116T>C	NP_001341824.1:p.Ser1706Pro
NM_001354896.1:c.5170T>C	NP_001341825.1:p.Ser1724Pro
NM_001354897.1:c.5146T>C	NP_001341826.1:p.Ser1716Pro
NM_001354898.1:c.5041T>C	NP_001341827.1:p.Ser1681Pro
NM_001354899.1:c.5032T>C	NP_001341828.1:p.Ser1678Pro
NM_001354900.1:c.4993T>C	NP_001341829.1:p.Ser1665Pro
NM_001354901.1:c.4939T>C	NP_001341830.1:p.Ser1647Pro
NM_001354902.1:c.4843T>C	NP_001341831.1:p.Ser1615Pro
NM_001354903.1:c.4813T>C	NP_001341832.1:p.Ser1605Pro
NM_001354904.1:c.4738T>C	NP_001341833.1:p.Ser1580Pro
NM_001354905.1:c.4636T>C	NP_001341834.1:p.Ser1546Pro
NM_001354906.1:c.4267T>C	NP_001341835.1:p.Ser1423Pro
NM_000038.6:c.5116T>C MANE Select	NP_000029.2:p.Ser1706Pro
NM_001127510.3:c.5116T>C	NP_001120982.1:p.Ser1706Pro
NM_001127511.3:c.5062T>C	NP_001120983.2:p.Ser1688Pro
NM_001354895.2:c.5116T>C	NP_001341824.1:p.Ser1706Pro
NM_001354896.2:c.5170T>C	NP_001341825.1:p.Ser1724Pro
NM_001354897.2:c.5146T>C	NP_001341826.1:p.Ser1716Pro
NM_001354898.2:c.5041T>C	NP_001341827.1:p.Ser1681Pro
NM_001354899.2:c.5032T>C	NP_001341828.1:p.Ser1678Pro
NM_001354900.2:c.4993T>C	NP_001341829.1:p.Ser1665Pro
NM_001354901.2:c.4939T>C	NP_001341830.1:p.Ser1647Pro
NM_001354902.2:c.4843T>C	NP_001341831.1:p.Ser1615Pro
NM_001354903.2:c.4813T>C	NP_001341832.1:p.Ser1605Pro
NM_001354904.2:c.4738T>C	NP_001341833.1:p.Ser1580Pro
NM_001354905.2:c.4636T>C	NP_001341834.1:p.Ser1546Pro
NM_001354906.2:c.4267T>C	NP_001341835.1:p.Ser1423Pro