Canonical Allele Identifier: CA16033730

Gene: APC

Linked Data

• gnomAD v4: 5-112841257-A-C
• MyVariant Identifiers: chr5:g.112176954A>C (hg19) ; chr5:g.112841257A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841257A>C , CM000667.2:g.112841257A>C	GRCh38
NC_000005.9:g.112176954A>C , CM000667.1:g.112176954A>C	GRCh37
NC_000005.8:g.112204853A>C	NCBI36
NG_008481.4:g.153737A>C , LRG_130:g.153737A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5717A>C	ENSP00000473355.2:p.Lys1906Thr
ENST00000505350.2:c.*5669A>C	ENSP00000481752.1:n.*5669A>C
ENST00000507379.6:c.5609A>C	ENSP00000423224.2:p.Lys1870Thr
ENST00000509732.6:c.5663A>C	ENSP00000426541.2:p.Lys1888Thr
ENST00000512211.7:c.5663A>C	ENSP00000423828.3:p.Lys1888Thr
ENST00000257430.9:c.5663A>C MANE Select	ENSP00000257430.4:p.Lys1888Thr
ENST00000257430.8:c.5663A>C	ENSP00000257430.4:p.Lys1888Thr
ENST00000508376.6:c.5663A>C	ENSP00000427089.2:p.Lys1888Thr
ENST00000508624.5:c.*4985A>C	ENSP00000424265.1:n.*4985A>C
ENST00000520401.1:c.230+12285A>C
NM_000038.5:c.5663A>C	NP_000029.2:p.Lys1888Thr
NM_001127510.2:c.5663A>C	NP_001120982.1:p.Lys1888Thr
NM_001127511.2:c.5609A>C	NP_001120983.2:p.Lys1870Thr
NM_001354895.1:c.5663A>C	NP_001341824.1:p.Lys1888Thr
NM_001354896.1:c.5717A>C	NP_001341825.1:p.Lys1906Thr
NM_001354897.1:c.5693A>C	NP_001341826.1:p.Lys1898Thr
NM_001354898.1:c.5588A>C	NP_001341827.1:p.Lys1863Thr
NM_001354899.1:c.5579A>C	NP_001341828.1:p.Lys1860Thr
NM_001354900.1:c.5540A>C	NP_001341829.1:p.Lys1847Thr
NM_001354901.1:c.5486A>C	NP_001341830.1:p.Lys1829Thr
NM_001354902.1:c.5390A>C	NP_001341831.1:p.Lys1797Thr
NM_001354903.1:c.5360A>C	NP_001341832.1:p.Lys1787Thr
NM_001354904.1:c.5285A>C	NP_001341833.1:p.Lys1762Thr
NM_001354905.1:c.5183A>C	NP_001341834.1:p.Lys1728Thr
NM_001354906.1:c.4814A>C	NP_001341835.1:p.Lys1605Thr
NM_000038.6:c.5663A>C MANE Select	NP_000029.2:p.Lys1888Thr
NM_001127510.3:c.5663A>C	NP_001120982.1:p.Lys1888Thr
NM_001127511.3:c.5609A>C	NP_001120983.2:p.Lys1870Thr
NM_001354895.2:c.5663A>C	NP_001341824.1:p.Lys1888Thr
NM_001354896.2:c.5717A>C	NP_001341825.1:p.Lys1906Thr
NM_001354897.2:c.5693A>C	NP_001341826.1:p.Lys1898Thr
NM_001354898.2:c.5588A>C	NP_001341827.1:p.Lys1863Thr
NM_001354899.2:c.5579A>C	NP_001341828.1:p.Lys1860Thr
NM_001354900.2:c.5540A>C	NP_001341829.1:p.Lys1847Thr
NM_001354901.2:c.5486A>C	NP_001341830.1:p.Lys1829Thr
NM_001354902.2:c.5390A>C	NP_001341831.1:p.Lys1797Thr
NM_001354903.2:c.5360A>C	NP_001341832.1:p.Lys1787Thr
NM_001354904.2:c.5285A>C	NP_001341833.1:p.Lys1762Thr
NM_001354905.2:c.5183A>C	NP_001341834.1:p.Lys1728Thr
NM_001354906.2:c.4814A>C	NP_001341835.1:p.Lys1605Thr