Canonical Allele Identifier: CA16032556

Gene: APC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5191T>A	ENSP00000473355.2:p.Leu1731Met
ENST00000505350.2:c.*5143T>A	ENSP00000481752.1:n.*5143T>A
ENST00000507379.6:c.5083T>A	ENSP00000423224.2:p.Leu1695Met
ENST00000509732.6:c.5137T>A	ENSP00000426541.2:p.Leu1713Met
ENST00000512211.7:c.5137T>A	ENSP00000423828.3:p.Leu1713Met
ENST00000257430.9:c.5137T>A MANE Select	ENSP00000257430.4:p.Leu1713Met
ENST00000257430.8:c.5137T>A	ENSP00000257430.4:p.Leu1713Met
ENST00000508376.6:c.5137T>A	ENSP00000427089.2:p.Leu1713Met
ENST00000508624.5:c.*4459T>A	ENSP00000424265.1:n.*4459T>A
ENST00000520401.1:c.230+11759T>A
NM_000038.5:c.5137T>A	NP_000029.2:p.Leu1713Met
NM_001127510.2:c.5137T>A	NP_001120982.1:p.Leu1713Met
NM_001127511.2:c.5083T>A	NP_001120983.2:p.Leu1695Met
NM_001354895.1:c.5137T>A	NP_001341824.1:p.Leu1713Met
NM_001354896.1:c.5191T>A	NP_001341825.1:p.Leu1731Met
NM_001354897.1:c.5167T>A	NP_001341826.1:p.Leu1723Met
NM_001354898.1:c.5062T>A	NP_001341827.1:p.Leu1688Met
NM_001354899.1:c.5053T>A	NP_001341828.1:p.Leu1685Met
NM_001354900.1:c.5014T>A	NP_001341829.1:p.Leu1672Met
NM_001354901.1:c.4960T>A	NP_001341830.1:p.Leu1654Met
NM_001354902.1:c.4864T>A	NP_001341831.1:p.Leu1622Met
NM_001354903.1:c.4834T>A	NP_001341832.1:p.Leu1612Met
NM_001354904.1:c.4759T>A	NP_001341833.1:p.Leu1587Met
NM_001354905.1:c.4657T>A	NP_001341834.1:p.Leu1553Met
NM_001354906.1:c.4288T>A	NP_001341835.1:p.Leu1430Met
NM_000038.6:c.5137T>A MANE Select	NP_000029.2:p.Leu1713Met
NM_001127510.3:c.5137T>A	NP_001120982.1:p.Leu1713Met
NM_001127511.3:c.5083T>A	NP_001120983.2:p.Leu1695Met
NM_001354895.2:c.5137T>A	NP_001341824.1:p.Leu1713Met
NM_001354896.2:c.5191T>A	NP_001341825.1:p.Leu1731Met
NM_001354897.2:c.5167T>A	NP_001341826.1:p.Leu1723Met
NM_001354898.2:c.5062T>A	NP_001341827.1:p.Leu1688Met
NM_001354899.2:c.5053T>A	NP_001341828.1:p.Leu1685Met
NM_001354900.2:c.5014T>A	NP_001341829.1:p.Leu1672Met
NM_001354901.2:c.4960T>A	NP_001341830.1:p.Leu1654Met
NM_001354902.2:c.4864T>A	NP_001341831.1:p.Leu1622Met
NM_001354903.2:c.4834T>A	NP_001341832.1:p.Leu1612Met
NM_001354904.2:c.4759T>A	NP_001341833.1:p.Leu1587Met
NM_001354905.2:c.4657T>A	NP_001341834.1:p.Leu1553Met
NM_001354906.2:c.4288T>A	NP_001341835.1:p.Leu1430Met