Canonical Allele Identifier: CA16032557

Gene: APC

Linked Data

• dbSNP Id: rs1554086476
• MyVariant Identifiers: chr5:g.112176428T>G (hg19) ; chr5:g.112840731T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840731T>G , CM000667.2:g.112840731T>G	GRCh38
NC_000005.9:g.112176428T>G , CM000667.1:g.112176428T>G	GRCh37
NC_000005.8:g.112204327T>G	NCBI36
NG_008481.4:g.153211T>G , LRG_130:g.153211T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5191T>G	ENSP00000473355.2:p.Leu1731Val
ENST00000505350.2:c.*5143T>G	ENSP00000481752.1:n.*5143T>G
ENST00000507379.6:c.5083T>G	ENSP00000423224.2:p.Leu1695Val
ENST00000509732.6:c.5137T>G	ENSP00000426541.2:p.Leu1713Val
ENST00000512211.7:c.5137T>G	ENSP00000423828.3:p.Leu1713Val
ENST00000257430.9:c.5137T>G MANE Select	ENSP00000257430.4:p.Leu1713Val
ENST00000257430.8:c.5137T>G	ENSP00000257430.4:p.Leu1713Val
ENST00000508376.6:c.5137T>G	ENSP00000427089.2:p.Leu1713Val
ENST00000508624.5:c.*4459T>G	ENSP00000424265.1:n.*4459T>G
ENST00000520401.1:c.230+11759T>G
NM_000038.5:c.5137T>G	NP_000029.2:p.Leu1713Val
NM_001127510.2:c.5137T>G	NP_001120982.1:p.Leu1713Val
NM_001127511.2:c.5083T>G	NP_001120983.2:p.Leu1695Val
NM_001354895.1:c.5137T>G	NP_001341824.1:p.Leu1713Val
NM_001354896.1:c.5191T>G	NP_001341825.1:p.Leu1731Val
NM_001354897.1:c.5167T>G	NP_001341826.1:p.Leu1723Val
NM_001354898.1:c.5062T>G	NP_001341827.1:p.Leu1688Val
NM_001354899.1:c.5053T>G	NP_001341828.1:p.Leu1685Val
NM_001354900.1:c.5014T>G	NP_001341829.1:p.Leu1672Val
NM_001354901.1:c.4960T>G	NP_001341830.1:p.Leu1654Val
NM_001354902.1:c.4864T>G	NP_001341831.1:p.Leu1622Val
NM_001354903.1:c.4834T>G	NP_001341832.1:p.Leu1612Val
NM_001354904.1:c.4759T>G	NP_001341833.1:p.Leu1587Val
NM_001354905.1:c.4657T>G	NP_001341834.1:p.Leu1553Val
NM_001354906.1:c.4288T>G	NP_001341835.1:p.Leu1430Val
NM_000038.6:c.5137T>G MANE Select	NP_000029.2:p.Leu1713Val
NM_001127510.3:c.5137T>G	NP_001120982.1:p.Leu1713Val
NM_001127511.3:c.5083T>G	NP_001120983.2:p.Leu1695Val
NM_001354895.2:c.5137T>G	NP_001341824.1:p.Leu1713Val
NM_001354896.2:c.5191T>G	NP_001341825.1:p.Leu1731Val
NM_001354897.2:c.5167T>G	NP_001341826.1:p.Leu1723Val
NM_001354898.2:c.5062T>G	NP_001341827.1:p.Leu1688Val
NM_001354899.2:c.5053T>G	NP_001341828.1:p.Leu1685Val
NM_001354900.2:c.5014T>G	NP_001341829.1:p.Leu1672Val
NM_001354901.2:c.4960T>G	NP_001341830.1:p.Leu1654Val
NM_001354902.2:c.4864T>G	NP_001341831.1:p.Leu1622Val
NM_001354903.2:c.4834T>G	NP_001341832.1:p.Leu1612Val
NM_001354904.2:c.4759T>G	NP_001341833.1:p.Leu1587Val
NM_001354905.2:c.4657T>G	NP_001341834.1:p.Leu1553Val
NM_001354906.2:c.4288T>G	NP_001341835.1:p.Leu1430Val