Canonical Allele Identifier: CA16036852

Gene: APC

Linked Data

• dbSNP Id: rs751810780
• MyVariant Identifiers: chr5:g.112178417C>A (hg19) ; chr5:g.112842720C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842720C>A , CM000667.2:g.112842720C>A	GRCh38
NC_000005.9:g.112178417C>A , CM000667.1:g.112178417C>A	GRCh37
NC_000005.8:g.112206316C>A	NCBI36
NG_008481.4:g.155200C>A , LRG_130:g.155200C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7180C>A	ENSP00000473355.2:p.Gln2394Lys
ENST00000505350.2:c.*7132C>A	ENSP00000481752.1:n.*7132C>A
ENST00000507379.6:c.7072C>A	ENSP00000423224.2:p.Gln2358Lys
ENST00000509732.6:c.7126C>A	ENSP00000426541.2:p.Gln2376Lys
ENST00000512211.7:c.7126C>A	ENSP00000423828.3:p.Gln2376Lys
ENST00000257430.9:c.7126C>A MANE Select	ENSP00000257430.4:p.Gln2376Lys
ENST00000257430.8:c.7126C>A	ENSP00000257430.4:p.Gln2376Lys
ENST00000508376.6:c.7126C>A	ENSP00000427089.2:p.Gln2376Lys
ENST00000508624.5:c.*6448C>A	ENSP00000424265.1:n.*6448C>A
ENST00000520401.1:c.230+13748C>A
NM_000038.5:c.7126C>A	NP_000029.2:p.Gln2376Lys
NM_001127510.2:c.7126C>A	NP_001120982.1:p.Gln2376Lys
NM_001127511.2:c.7072C>A	NP_001120983.2:p.Gln2358Lys
NM_001354895.1:c.7126C>A	NP_001341824.1:p.Gln2376Lys
NM_001354896.1:c.7180C>A	NP_001341825.1:p.Gln2394Lys
NM_001354897.1:c.7156C>A	NP_001341826.1:p.Gln2386Lys
NM_001354898.1:c.7051C>A	NP_001341827.1:p.Gln2351Lys
NM_001354899.1:c.7042C>A	NP_001341828.1:p.Gln2348Lys
NM_001354900.1:c.7003C>A	NP_001341829.1:p.Gln2335Lys
NM_001354901.1:c.6949C>A	NP_001341830.1:p.Gln2317Lys
NM_001354902.1:c.6853C>A	NP_001341831.1:p.Gln2285Lys
NM_001354903.1:c.6823C>A	NP_001341832.1:p.Gln2275Lys
NM_001354904.1:c.6748C>A	NP_001341833.1:p.Gln2250Lys
NM_001354905.1:c.6646C>A	NP_001341834.1:p.Gln2216Lys
NM_001354906.1:c.6277C>A	NP_001341835.1:p.Gln2093Lys
NM_000038.6:c.7126C>A MANE Select	NP_000029.2:p.Gln2376Lys
NM_001127510.3:c.7126C>A	NP_001120982.1:p.Gln2376Lys
NM_001127511.3:c.7072C>A	NP_001120983.2:p.Gln2358Lys
NM_001354895.2:c.7126C>A	NP_001341824.1:p.Gln2376Lys
NM_001354896.2:c.7180C>A	NP_001341825.1:p.Gln2394Lys
NM_001354897.2:c.7156C>A	NP_001341826.1:p.Gln2386Lys
NM_001354898.2:c.7051C>A	NP_001341827.1:p.Gln2351Lys
NM_001354899.2:c.7042C>A	NP_001341828.1:p.Gln2348Lys
NM_001354900.2:c.7003C>A	NP_001341829.1:p.Gln2335Lys
NM_001354901.2:c.6949C>A	NP_001341830.1:p.Gln2317Lys
NM_001354902.2:c.6853C>A	NP_001341831.1:p.Gln2285Lys
NM_001354903.2:c.6823C>A	NP_001341832.1:p.Gln2275Lys
NM_001354904.2:c.6748C>A	NP_001341833.1:p.Gln2250Lys
NM_001354905.2:c.6646C>A	NP_001341834.1:p.Gln2216Lys
NM_001354906.2:c.6277C>A	NP_001341835.1:p.Gln2093Lys