Canonical Allele Identifier: CA16032547

Gene: APC

Linked Data

• dbSNP Id: rs2149932798
• MyVariant Identifiers: chr5:g.112176423C>T (hg19) ; chr5:g.112840726C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840726C>T , CM000667.2:g.112840726C>T	GRCh38
NC_000005.9:g.112176423C>T , CM000667.1:g.112176423C>T	GRCh37
NC_000005.8:g.112204322C>T	NCBI36
NG_008481.4:g.153206C>T , LRG_130:g.153206C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5186C>T	ENSP00000473355.2:p.Pro1729Leu
ENST00000505350.2:c.*5138C>T	ENSP00000481752.1:n.*5138C>T
ENST00000507379.6:c.5078C>T	ENSP00000423224.2:p.Pro1693Leu
ENST00000509732.6:c.5132C>T	ENSP00000426541.2:p.Pro1711Leu
ENST00000512211.7:c.5132C>T	ENSP00000423828.3:p.Pro1711Leu
ENST00000257430.9:c.5132C>T MANE Select	ENSP00000257430.4:p.Pro1711Leu
ENST00000257430.8:c.5132C>T	ENSP00000257430.4:p.Pro1711Leu
ENST00000508376.6:c.5132C>T	ENSP00000427089.2:p.Pro1711Leu
ENST00000508624.5:c.*4454C>T	ENSP00000424265.1:n.*4454C>T
ENST00000520401.1:c.230+11754C>T
NM_000038.5:c.5132C>T	NP_000029.2:p.Pro1711Leu
NM_001127510.2:c.5132C>T	NP_001120982.1:p.Pro1711Leu
NM_001127511.2:c.5078C>T	NP_001120983.2:p.Pro1693Leu
NM_001354895.1:c.5132C>T	NP_001341824.1:p.Pro1711Leu
NM_001354896.1:c.5186C>T	NP_001341825.1:p.Pro1729Leu
NM_001354897.1:c.5162C>T	NP_001341826.1:p.Pro1721Leu
NM_001354898.1:c.5057C>T	NP_001341827.1:p.Pro1686Leu
NM_001354899.1:c.5048C>T	NP_001341828.1:p.Pro1683Leu
NM_001354900.1:c.5009C>T	NP_001341829.1:p.Pro1670Leu
NM_001354901.1:c.4955C>T	NP_001341830.1:p.Pro1652Leu
NM_001354902.1:c.4859C>T	NP_001341831.1:p.Pro1620Leu
NM_001354903.1:c.4829C>T	NP_001341832.1:p.Pro1610Leu
NM_001354904.1:c.4754C>T	NP_001341833.1:p.Pro1585Leu
NM_001354905.1:c.4652C>T	NP_001341834.1:p.Pro1551Leu
NM_001354906.1:c.4283C>T	NP_001341835.1:p.Pro1428Leu
NM_000038.6:c.5132C>T MANE Select	NP_000029.2:p.Pro1711Leu
NM_001127510.3:c.5132C>T	NP_001120982.1:p.Pro1711Leu
NM_001127511.3:c.5078C>T	NP_001120983.2:p.Pro1693Leu
NM_001354895.2:c.5132C>T	NP_001341824.1:p.Pro1711Leu
NM_001354896.2:c.5186C>T	NP_001341825.1:p.Pro1729Leu
NM_001354897.2:c.5162C>T	NP_001341826.1:p.Pro1721Leu
NM_001354898.2:c.5057C>T	NP_001341827.1:p.Pro1686Leu
NM_001354899.2:c.5048C>T	NP_001341828.1:p.Pro1683Leu
NM_001354900.2:c.5009C>T	NP_001341829.1:p.Pro1670Leu
NM_001354901.2:c.4955C>T	NP_001341830.1:p.Pro1652Leu
NM_001354902.2:c.4859C>T	NP_001341831.1:p.Pro1620Leu
NM_001354903.2:c.4829C>T	NP_001341832.1:p.Pro1610Leu
NM_001354904.2:c.4754C>T	NP_001341833.1:p.Pro1585Leu
NM_001354905.2:c.4652C>T	NP_001341834.1:p.Pro1551Leu
NM_001354906.2:c.4283C>T	NP_001341835.1:p.Pro1428Leu