Canonical Allele Identifier: CA16034011

Gene: APC

Linked Data

• ClinVar Variation Id: 630647
• ClinVar RCV Id: RCV000776593 ; RCV003744648
• dbSNP Id: rs876660658
• MyVariant Identifiers: chr5:g.112177086C>G (hg19) ; chr5:g.112841389C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841389C>G , CM000667.2:g.112841389C>G	GRCh38
NC_000005.9:g.112177086C>G , CM000667.1:g.112177086C>G	GRCh37
NC_000005.8:g.112204985C>G	NCBI36
NG_008481.4:g.153869C>G , LRG_130:g.153869C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5849C>G	ENSP00000473355.2:p.Thr1950Ser
ENST00000505350.2:c.*5801C>G	ENSP00000481752.1:n.*5801C>G
ENST00000507379.6:c.5741C>G	ENSP00000423224.2:p.Thr1914Ser
ENST00000509732.6:c.5795C>G	ENSP00000426541.2:p.Thr1932Ser
ENST00000512211.7:c.5795C>G	ENSP00000423828.3:p.Thr1932Ser
ENST00000257430.9:c.5795C>G MANE Select	ENSP00000257430.4:p.Thr1932Ser
ENST00000257430.8:c.5795C>G	ENSP00000257430.4:p.Thr1932Ser
ENST00000508376.6:c.5795C>G	ENSP00000427089.2:p.Thr1932Ser
ENST00000508624.5:c.*5117C>G	ENSP00000424265.1:n.*5117C>G
ENST00000520401.1:c.230+12417C>G
NM_000038.5:c.5795C>G	NP_000029.2:p.Thr1932Ser
NM_001127510.2:c.5795C>G	NP_001120982.1:p.Thr1932Ser
NM_001127511.2:c.5741C>G	NP_001120983.2:p.Thr1914Ser
NM_001354895.1:c.5795C>G	NP_001341824.1:p.Thr1932Ser
NM_001354896.1:c.5849C>G	NP_001341825.1:p.Thr1950Ser
NM_001354897.1:c.5825C>G	NP_001341826.1:p.Thr1942Ser
NM_001354898.1:c.5720C>G	NP_001341827.1:p.Thr1907Ser
NM_001354899.1:c.5711C>G	NP_001341828.1:p.Thr1904Ser
NM_001354900.1:c.5672C>G	NP_001341829.1:p.Thr1891Ser
NM_001354901.1:c.5618C>G	NP_001341830.1:p.Thr1873Ser
NM_001354902.1:c.5522C>G	NP_001341831.1:p.Thr1841Ser
NM_001354903.1:c.5492C>G	NP_001341832.1:p.Thr1831Ser
NM_001354904.1:c.5417C>G	NP_001341833.1:p.Thr1806Ser
NM_001354905.1:c.5315C>G	NP_001341834.1:p.Thr1772Ser
NM_001354906.1:c.4946C>G	NP_001341835.1:p.Thr1649Ser
NM_000038.6:c.5795C>G MANE Select	NP_000029.2:p.Thr1932Ser
NM_001127510.3:c.5795C>G	NP_001120982.1:p.Thr1932Ser
NM_001127511.3:c.5741C>G	NP_001120983.2:p.Thr1914Ser
NM_001354895.2:c.5795C>G	NP_001341824.1:p.Thr1932Ser
NM_001354896.2:c.5849C>G	NP_001341825.1:p.Thr1950Ser
NM_001354897.2:c.5825C>G	NP_001341826.1:p.Thr1942Ser
NM_001354898.2:c.5720C>G	NP_001341827.1:p.Thr1907Ser
NM_001354899.2:c.5711C>G	NP_001341828.1:p.Thr1904Ser
NM_001354900.2:c.5672C>G	NP_001341829.1:p.Thr1891Ser
NM_001354901.2:c.5618C>G	NP_001341830.1:p.Thr1873Ser
NM_001354902.2:c.5522C>G	NP_001341831.1:p.Thr1841Ser
NM_001354903.2:c.5492C>G	NP_001341832.1:p.Thr1831Ser
NM_001354904.2:c.5417C>G	NP_001341833.1:p.Thr1806Ser
NM_001354905.2:c.5315C>G	NP_001341834.1:p.Thr1772Ser
NM_001354906.2:c.4946C>G	NP_001341835.1:p.Thr1649Ser