Canonical Allele Identifier: CA16032290

Gene: APC

Linked Data

• dbSNP Id: rs2149929682
• MyVariant Identifiers: chr5:g.112176298A>T (hg19) ; chr5:g.112840601A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840601A>T , CM000667.2:g.112840601A>T	GRCh38
NC_000005.9:g.112176298A>T , CM000667.1:g.112176298A>T	GRCh37
NC_000005.8:g.112204197A>T	NCBI36
NG_008481.4:g.153081A>T , LRG_130:g.153081A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5061A>T	ENSP00000473355.2:p.Leu1687Phe
ENST00000505350.2:c.*5013A>T	ENSP00000481752.1:n.*5013A>T
ENST00000507379.6:c.4953A>T	ENSP00000423224.2:p.Leu1651Phe
ENST00000509732.6:c.5007A>T	ENSP00000426541.2:p.Leu1669Phe
ENST00000512211.7:c.5007A>T	ENSP00000423828.3:p.Leu1669Phe
ENST00000257430.9:c.5007A>T MANE Select	ENSP00000257430.4:p.Leu1669Phe
ENST00000257430.8:c.5007A>T	ENSP00000257430.4:p.Leu1669Phe
ENST00000508376.6:c.5007A>T	ENSP00000427089.2:p.Leu1669Phe
ENST00000508624.5:c.*4329A>T	ENSP00000424265.1:n.*4329A>T
ENST00000520401.1:c.230+11629A>T
NM_000038.5:c.5007A>T	NP_000029.2:p.Leu1669Phe
NM_001127510.2:c.5007A>T	NP_001120982.1:p.Leu1669Phe
NM_001127511.2:c.4953A>T	NP_001120983.2:p.Leu1651Phe
NM_001354895.1:c.5007A>T	NP_001341824.1:p.Leu1669Phe
NM_001354896.1:c.5061A>T	NP_001341825.1:p.Leu1687Phe
NM_001354897.1:c.5037A>T	NP_001341826.1:p.Leu1679Phe
NM_001354898.1:c.4932A>T	NP_001341827.1:p.Leu1644Phe
NM_001354899.1:c.4923A>T	NP_001341828.1:p.Leu1641Phe
NM_001354900.1:c.4884A>T	NP_001341829.1:p.Leu1628Phe
NM_001354901.1:c.4830A>T	NP_001341830.1:p.Leu1610Phe
NM_001354902.1:c.4734A>T	NP_001341831.1:p.Leu1578Phe
NM_001354903.1:c.4704A>T	NP_001341832.1:p.Leu1568Phe
NM_001354904.1:c.4629A>T	NP_001341833.1:p.Leu1543Phe
NM_001354905.1:c.4527A>T	NP_001341834.1:p.Leu1509Phe
NM_001354906.1:c.4158A>T	NP_001341835.1:p.Leu1386Phe
NM_000038.6:c.5007A>T MANE Select	NP_000029.2:p.Leu1669Phe
NM_001127510.3:c.5007A>T	NP_001120982.1:p.Leu1669Phe
NM_001127511.3:c.4953A>T	NP_001120983.2:p.Leu1651Phe
NM_001354895.2:c.5007A>T	NP_001341824.1:p.Leu1669Phe
NM_001354896.2:c.5061A>T	NP_001341825.1:p.Leu1687Phe
NM_001354897.2:c.5037A>T	NP_001341826.1:p.Leu1679Phe
NM_001354898.2:c.4932A>T	NP_001341827.1:p.Leu1644Phe
NM_001354899.2:c.4923A>T	NP_001341828.1:p.Leu1641Phe
NM_001354900.2:c.4884A>T	NP_001341829.1:p.Leu1628Phe
NM_001354901.2:c.4830A>T	NP_001341830.1:p.Leu1610Phe
NM_001354902.2:c.4734A>T	NP_001341831.1:p.Leu1578Phe
NM_001354903.2:c.4704A>T	NP_001341832.1:p.Leu1568Phe
NM_001354904.2:c.4629A>T	NP_001341833.1:p.Leu1543Phe
NM_001354905.2:c.4527A>T	NP_001341834.1:p.Leu1509Phe
NM_001354906.2:c.4158A>T	NP_001341835.1:p.Leu1386Phe