Canonical Allele Identifier: CA16036662

Gene: APC

Linked Data

• dbSNP Id: rs2149978638
• MyVariant Identifiers: chr5:g.112178324C>A (hg19) ; chr5:g.112842627C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842627C>A , CM000667.2:g.112842627C>A	GRCh38
NC_000005.9:g.112178324C>A , CM000667.1:g.112178324C>A	GRCh37
NC_000005.8:g.112206223C>A	NCBI36
NG_008481.4:g.155107C>A , LRG_130:g.155107C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7087C>A	ENSP00000473355.2:p.Leu2363Ile
ENST00000505350.2:c.*7039C>A	ENSP00000481752.1:n.*7039C>A
ENST00000507379.6:c.6979C>A	ENSP00000423224.2:p.Leu2327Ile
ENST00000509732.6:c.7033C>A	ENSP00000426541.2:p.Leu2345Ile
ENST00000512211.7:c.7033C>A	ENSP00000423828.3:p.Leu2345Ile
ENST00000257430.9:c.7033C>A MANE Select	ENSP00000257430.4:p.Leu2345Ile
ENST00000257430.8:c.7033C>A	ENSP00000257430.4:p.Leu2345Ile
ENST00000508376.6:c.7033C>A	ENSP00000427089.2:p.Leu2345Ile
ENST00000508624.5:c.*6355C>A	ENSP00000424265.1:n.*6355C>A
ENST00000520401.1:c.230+13655C>A
NM_000038.5:c.7033C>A	NP_000029.2:p.Leu2345Ile
NM_001127510.2:c.7033C>A	NP_001120982.1:p.Leu2345Ile
NM_001127511.2:c.6979C>A	NP_001120983.2:p.Leu2327Ile
NM_001354895.1:c.7033C>A	NP_001341824.1:p.Leu2345Ile
NM_001354896.1:c.7087C>A	NP_001341825.1:p.Leu2363Ile
NM_001354897.1:c.7063C>A	NP_001341826.1:p.Leu2355Ile
NM_001354898.1:c.6958C>A	NP_001341827.1:p.Leu2320Ile
NM_001354899.1:c.6949C>A	NP_001341828.1:p.Leu2317Ile
NM_001354900.1:c.6910C>A	NP_001341829.1:p.Leu2304Ile
NM_001354901.1:c.6856C>A	NP_001341830.1:p.Leu2286Ile
NM_001354902.1:c.6760C>A	NP_001341831.1:p.Leu2254Ile
NM_001354903.1:c.6730C>A	NP_001341832.1:p.Leu2244Ile
NM_001354904.1:c.6655C>A	NP_001341833.1:p.Leu2219Ile
NM_001354905.1:c.6553C>A	NP_001341834.1:p.Leu2185Ile
NM_001354906.1:c.6184C>A	NP_001341835.1:p.Leu2062Ile
NM_000038.6:c.7033C>A MANE Select	NP_000029.2:p.Leu2345Ile
NM_001127510.3:c.7033C>A	NP_001120982.1:p.Leu2345Ile
NM_001127511.3:c.6979C>A	NP_001120983.2:p.Leu2327Ile
NM_001354895.2:c.7033C>A	NP_001341824.1:p.Leu2345Ile
NM_001354896.2:c.7087C>A	NP_001341825.1:p.Leu2363Ile
NM_001354897.2:c.7063C>A	NP_001341826.1:p.Leu2355Ile
NM_001354898.2:c.6958C>A	NP_001341827.1:p.Leu2320Ile
NM_001354899.2:c.6949C>A	NP_001341828.1:p.Leu2317Ile
NM_001354900.2:c.6910C>A	NP_001341829.1:p.Leu2304Ile
NM_001354901.2:c.6856C>A	NP_001341830.1:p.Leu2286Ile
NM_001354902.2:c.6760C>A	NP_001341831.1:p.Leu2254Ile
NM_001354903.2:c.6730C>A	NP_001341832.1:p.Leu2244Ile
NM_001354904.2:c.6655C>A	NP_001341833.1:p.Leu2219Ile
NM_001354905.2:c.6553C>A	NP_001341834.1:p.Leu2185Ile
NM_001354906.2:c.6184C>A	NP_001341835.1:p.Leu2062Ile