Canonical Allele Identifier: CA16032128

Gene: APC

Linked Data

• dbSNP Id: rs2149927688
• MyVariant Identifiers: chr5:g.112176221G>C (hg19) ; chr5:g.112840524G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840524G>C , CM000667.2:g.112840524G>C	GRCh38
NC_000005.9:g.112176221G>C , CM000667.1:g.112176221G>C	GRCh37
NC_000005.8:g.112204120G>C	NCBI36
NG_008481.4:g.153004G>C , LRG_130:g.153004G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4984G>C	ENSP00000473355.2:p.Val1662Leu
ENST00000505350.2:c.*4936G>C	ENSP00000481752.1:n.*4936G>C
ENST00000507379.6:c.4876G>C	ENSP00000423224.2:p.Val1626Leu
ENST00000509732.6:c.4930G>C	ENSP00000426541.2:p.Val1644Leu
ENST00000512211.7:c.4930G>C	ENSP00000423828.3:p.Val1644Leu
ENST00000257430.9:c.4930G>C MANE Select	ENSP00000257430.4:p.Val1644Leu
ENST00000257430.8:c.4930G>C	ENSP00000257430.4:p.Val1644Leu
ENST00000508376.6:c.4930G>C	ENSP00000427089.2:p.Val1644Leu
ENST00000508624.5:c.*4252G>C	ENSP00000424265.1:n.*4252G>C
ENST00000520401.1:c.230+11552G>C
NM_000038.5:c.4930G>C	NP_000029.2:p.Val1644Leu
NM_001127510.2:c.4930G>C	NP_001120982.1:p.Val1644Leu
NM_001127511.2:c.4876G>C	NP_001120983.2:p.Val1626Leu
NM_001354895.1:c.4930G>C	NP_001341824.1:p.Val1644Leu
NM_001354896.1:c.4984G>C	NP_001341825.1:p.Val1662Leu
NM_001354897.1:c.4960G>C	NP_001341826.1:p.Val1654Leu
NM_001354898.1:c.4855G>C	NP_001341827.1:p.Val1619Leu
NM_001354899.1:c.4846G>C	NP_001341828.1:p.Val1616Leu
NM_001354900.1:c.4807G>C	NP_001341829.1:p.Val1603Leu
NM_001354901.1:c.4753G>C	NP_001341830.1:p.Val1585Leu
NM_001354902.1:c.4657G>C	NP_001341831.1:p.Val1553Leu
NM_001354903.1:c.4627G>C	NP_001341832.1:p.Val1543Leu
NM_001354904.1:c.4552G>C	NP_001341833.1:p.Val1518Leu
NM_001354905.1:c.4450G>C	NP_001341834.1:p.Val1484Leu
NM_001354906.1:c.4081G>C	NP_001341835.1:p.Val1361Leu
NM_000038.6:c.4930G>C MANE Select	NP_000029.2:p.Val1644Leu
NM_001127510.3:c.4930G>C	NP_001120982.1:p.Val1644Leu
NM_001127511.3:c.4876G>C	NP_001120983.2:p.Val1626Leu
NM_001354895.2:c.4930G>C	NP_001341824.1:p.Val1644Leu
NM_001354896.2:c.4984G>C	NP_001341825.1:p.Val1662Leu
NM_001354897.2:c.4960G>C	NP_001341826.1:p.Val1654Leu
NM_001354898.2:c.4855G>C	NP_001341827.1:p.Val1619Leu
NM_001354899.2:c.4846G>C	NP_001341828.1:p.Val1616Leu
NM_001354900.2:c.4807G>C	NP_001341829.1:p.Val1603Leu
NM_001354901.2:c.4753G>C	NP_001341830.1:p.Val1585Leu
NM_001354902.2:c.4657G>C	NP_001341831.1:p.Val1553Leu
NM_001354903.2:c.4627G>C	NP_001341832.1:p.Val1543Leu
NM_001354904.2:c.4552G>C	NP_001341833.1:p.Val1518Leu
NM_001354905.2:c.4450G>C	NP_001341834.1:p.Val1484Leu
NM_001354906.2:c.4081G>C	NP_001341835.1:p.Val1361Leu