Canonical Allele Identifier: CA16036757

Gene: APC

Linked Data

• dbSNP Id: rs2149979626
• MyVariant Identifiers: chr5:g.112178372T>G (hg19) ; chr5:g.112842675T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842675T>G , CM000667.2:g.112842675T>G	GRCh38
NC_000005.9:g.112178372T>G , CM000667.1:g.112178372T>G	GRCh37
NC_000005.8:g.112206271T>G	NCBI36
NG_008481.4:g.155155T>G , LRG_130:g.155155T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7135T>G	ENSP00000473355.2:p.Ser2379Ala
ENST00000505350.2:c.*7087T>G	ENSP00000481752.1:n.*7087T>G
ENST00000507379.6:c.7027T>G	ENSP00000423224.2:p.Ser2343Ala
ENST00000509732.6:c.7081T>G	ENSP00000426541.2:p.Ser2361Ala
ENST00000512211.7:c.7081T>G	ENSP00000423828.3:p.Ser2361Ala
ENST00000257430.9:c.7081T>G MANE Select	ENSP00000257430.4:p.Ser2361Ala
ENST00000257430.8:c.7081T>G	ENSP00000257430.4:p.Ser2361Ala
ENST00000508376.6:c.7081T>G	ENSP00000427089.2:p.Ser2361Ala
ENST00000508624.5:c.*6403T>G	ENSP00000424265.1:n.*6403T>G
ENST00000520401.1:c.230+13703T>G
NM_000038.5:c.7081T>G	NP_000029.2:p.Ser2361Ala
NM_001127510.2:c.7081T>G	NP_001120982.1:p.Ser2361Ala
NM_001127511.2:c.7027T>G	NP_001120983.2:p.Ser2343Ala
NM_001354895.1:c.7081T>G	NP_001341824.1:p.Ser2361Ala
NM_001354896.1:c.7135T>G	NP_001341825.1:p.Ser2379Ala
NM_001354897.1:c.7111T>G	NP_001341826.1:p.Ser2371Ala
NM_001354898.1:c.7006T>G	NP_001341827.1:p.Ser2336Ala
NM_001354899.1:c.6997T>G	NP_001341828.1:p.Ser2333Ala
NM_001354900.1:c.6958T>G	NP_001341829.1:p.Ser2320Ala
NM_001354901.1:c.6904T>G	NP_001341830.1:p.Ser2302Ala
NM_001354902.1:c.6808T>G	NP_001341831.1:p.Ser2270Ala
NM_001354903.1:c.6778T>G	NP_001341832.1:p.Ser2260Ala
NM_001354904.1:c.6703T>G	NP_001341833.1:p.Ser2235Ala
NM_001354905.1:c.6601T>G	NP_001341834.1:p.Ser2201Ala
NM_001354906.1:c.6232T>G	NP_001341835.1:p.Ser2078Ala
NM_000038.6:c.7081T>G MANE Select	NP_000029.2:p.Ser2361Ala
NM_001127510.3:c.7081T>G	NP_001120982.1:p.Ser2361Ala
NM_001127511.3:c.7027T>G	NP_001120983.2:p.Ser2343Ala
NM_001354895.2:c.7081T>G	NP_001341824.1:p.Ser2361Ala
NM_001354896.2:c.7135T>G	NP_001341825.1:p.Ser2379Ala
NM_001354897.2:c.7111T>G	NP_001341826.1:p.Ser2371Ala
NM_001354898.2:c.7006T>G	NP_001341827.1:p.Ser2336Ala
NM_001354899.2:c.6997T>G	NP_001341828.1:p.Ser2333Ala
NM_001354900.2:c.6958T>G	NP_001341829.1:p.Ser2320Ala
NM_001354901.2:c.6904T>G	NP_001341830.1:p.Ser2302Ala
NM_001354902.2:c.6808T>G	NP_001341831.1:p.Ser2270Ala
NM_001354903.2:c.6778T>G	NP_001341832.1:p.Ser2260Ala
NM_001354904.2:c.6703T>G	NP_001341833.1:p.Ser2235Ala
NM_001354905.2:c.6601T>G	NP_001341834.1:p.Ser2201Ala
NM_001354906.2:c.6232T>G	NP_001341835.1:p.Ser2078Ala