Canonical Allele Identifier: CA16032484

Gene: APC

Linked Data

• ClinVar Variation Id: 853623
• ClinVar RCV Id: RCV003336297 ; RCV003649354
• dbSNP Id: rs1561597691
• MyVariant Identifiers: chr5:g.112176392C>T (hg19) ; chr5:g.112840695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840695C>T , CM000667.2:g.112840695C>T	GRCh38
NC_000005.9:g.112176392C>T , CM000667.1:g.112176392C>T	GRCh37
NC_000005.8:g.112204291C>T	NCBI36
NG_008481.4:g.153175C>T , LRG_130:g.153175C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5155C>T	ENSP00000473355.2:p.Gln1719Ter
ENST00000505350.2:c.*5107C>T	ENSP00000481752.1:n.*5107C>T
ENST00000507379.6:c.5047C>T	ENSP00000423224.2:p.Gln1683Ter
ENST00000509732.6:c.5101C>T	ENSP00000426541.2:p.Gln1701Ter
ENST00000512211.7:c.5101C>T	ENSP00000423828.3:p.Gln1701Ter
ENST00000257430.9:c.5101C>T MANE Select	ENSP00000257430.4:p.Gln1701Ter
ENST00000257430.8:c.5101C>T	ENSP00000257430.4:p.Gln1701Ter
ENST00000508376.6:c.5101C>T	ENSP00000427089.2:p.Gln1701Ter
ENST00000508624.5:c.*4423C>T	ENSP00000424265.1:n.*4423C>T
ENST00000520401.1:c.230+11723C>T
NM_000038.5:c.5101C>T	NP_000029.2:p.Gln1701Ter
NM_001127510.2:c.5101C>T	NP_001120982.1:p.Gln1701Ter
NM_001127511.2:c.5047C>T	NP_001120983.2:p.Gln1683Ter
NM_001354895.1:c.5101C>T	NP_001341824.1:p.Gln1701Ter
NM_001354896.1:c.5155C>T	NP_001341825.1:p.Gln1719Ter
NM_001354897.1:c.5131C>T	NP_001341826.1:p.Gln1711Ter
NM_001354898.1:c.5026C>T	NP_001341827.1:p.Gln1676Ter
NM_001354899.1:c.5017C>T	NP_001341828.1:p.Gln1673Ter
NM_001354900.1:c.4978C>T	NP_001341829.1:p.Gln1660Ter
NM_001354901.1:c.4924C>T	NP_001341830.1:p.Gln1642Ter
NM_001354902.1:c.4828C>T	NP_001341831.1:p.Gln1610Ter
NM_001354903.1:c.4798C>T	NP_001341832.1:p.Gln1600Ter
NM_001354904.1:c.4723C>T	NP_001341833.1:p.Gln1575Ter
NM_001354905.1:c.4621C>T	NP_001341834.1:p.Gln1541Ter
NM_001354906.1:c.4252C>T	NP_001341835.1:p.Gln1418Ter
NM_000038.6:c.5101C>T MANE Select	NP_000029.2:p.Gln1701Ter
NM_001127510.3:c.5101C>T	NP_001120982.1:p.Gln1701Ter
NM_001127511.3:c.5047C>T	NP_001120983.2:p.Gln1683Ter
NM_001354895.2:c.5101C>T	NP_001341824.1:p.Gln1701Ter
NM_001354896.2:c.5155C>T	NP_001341825.1:p.Gln1719Ter
NM_001354897.2:c.5131C>T	NP_001341826.1:p.Gln1711Ter
NM_001354898.2:c.5026C>T	NP_001341827.1:p.Gln1676Ter
NM_001354899.2:c.5017C>T	NP_001341828.1:p.Gln1673Ter
NM_001354900.2:c.4978C>T	NP_001341829.1:p.Gln1660Ter
NM_001354901.2:c.4924C>T	NP_001341830.1:p.Gln1642Ter
NM_001354902.2:c.4828C>T	NP_001341831.1:p.Gln1610Ter
NM_001354903.2:c.4798C>T	NP_001341832.1:p.Gln1600Ter
NM_001354904.2:c.4723C>T	NP_001341833.1:p.Gln1575Ter
NM_001354905.2:c.4621C>T	NP_001341834.1:p.Gln1541Ter
NM_001354906.2:c.4252C>T	NP_001341835.1:p.Gln1418Ter