Canonical Allele Identifier: CA16033851

Gene: APC

Linked Data

• dbSNP Id: rs2149947389
• MyVariant Identifiers: chr5:g.112177010G>C (hg19) ; chr5:g.112841313G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841313G>C , CM000667.2:g.112841313G>C	GRCh38
NC_000005.9:g.112177010G>C , CM000667.1:g.112177010G>C	GRCh37
NC_000005.8:g.112204909G>C	NCBI36
NG_008481.4:g.153793G>C , LRG_130:g.153793G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5773G>C	ENSP00000473355.2:p.Ala1925Pro
ENST00000505350.2:c.*5725G>C	ENSP00000481752.1:n.*5725G>C
ENST00000507379.6:c.5665G>C	ENSP00000423224.2:p.Ala1889Pro
ENST00000509732.6:c.5719G>C	ENSP00000426541.2:p.Ala1907Pro
ENST00000512211.7:c.5719G>C	ENSP00000423828.3:p.Ala1907Pro
ENST00000257430.9:c.5719G>C MANE Select	ENSP00000257430.4:p.Ala1907Pro
ENST00000257430.8:c.5719G>C	ENSP00000257430.4:p.Ala1907Pro
ENST00000508376.6:c.5719G>C	ENSP00000427089.2:p.Ala1907Pro
ENST00000508624.5:c.*5041G>C	ENSP00000424265.1:n.*5041G>C
ENST00000520401.1:c.230+12341G>C
NM_000038.5:c.5719G>C	NP_000029.2:p.Ala1907Pro
NM_001127510.2:c.5719G>C	NP_001120982.1:p.Ala1907Pro
NM_001127511.2:c.5665G>C	NP_001120983.2:p.Ala1889Pro
NM_001354895.1:c.5719G>C	NP_001341824.1:p.Ala1907Pro
NM_001354896.1:c.5773G>C	NP_001341825.1:p.Ala1925Pro
NM_001354897.1:c.5749G>C	NP_001341826.1:p.Ala1917Pro
NM_001354898.1:c.5644G>C	NP_001341827.1:p.Ala1882Pro
NM_001354899.1:c.5635G>C	NP_001341828.1:p.Ala1879Pro
NM_001354900.1:c.5596G>C	NP_001341829.1:p.Ala1866Pro
NM_001354901.1:c.5542G>C	NP_001341830.1:p.Ala1848Pro
NM_001354902.1:c.5446G>C	NP_001341831.1:p.Ala1816Pro
NM_001354903.1:c.5416G>C	NP_001341832.1:p.Ala1806Pro
NM_001354904.1:c.5341G>C	NP_001341833.1:p.Ala1781Pro
NM_001354905.1:c.5239G>C	NP_001341834.1:p.Ala1747Pro
NM_001354906.1:c.4870G>C	NP_001341835.1:p.Ala1624Pro
NM_000038.6:c.5719G>C MANE Select	NP_000029.2:p.Ala1907Pro
NM_001127510.3:c.5719G>C	NP_001120982.1:p.Ala1907Pro
NM_001127511.3:c.5665G>C	NP_001120983.2:p.Ala1889Pro
NM_001354895.2:c.5719G>C	NP_001341824.1:p.Ala1907Pro
NM_001354896.2:c.5773G>C	NP_001341825.1:p.Ala1925Pro
NM_001354897.2:c.5749G>C	NP_001341826.1:p.Ala1917Pro
NM_001354898.2:c.5644G>C	NP_001341827.1:p.Ala1882Pro
NM_001354899.2:c.5635G>C	NP_001341828.1:p.Ala1879Pro
NM_001354900.2:c.5596G>C	NP_001341829.1:p.Ala1866Pro
NM_001354901.2:c.5542G>C	NP_001341830.1:p.Ala1848Pro
NM_001354902.2:c.5446G>C	NP_001341831.1:p.Ala1816Pro
NM_001354903.2:c.5416G>C	NP_001341832.1:p.Ala1806Pro
NM_001354904.2:c.5341G>C	NP_001341833.1:p.Ala1781Pro
NM_001354905.2:c.5239G>C	NP_001341834.1:p.Ala1747Pro
NM_001354906.2:c.4870G>C	NP_001341835.1:p.Ala1624Pro