Canonical Allele Identifier: CA16028157

Gene: APC

Linked Data

• ClinVar Variation Id: 438874
• ClinVar RCV Id: RCV000507702
• dbSNP Id: rs1375326078
• MyVariant Identifiers: chr5:g.112174404C>T (hg19) ; chr5:g.112838707C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838707C>T , CM000667.2:g.112838707C>T	GRCh38
NC_000005.9:g.112174404C>T , CM000667.1:g.112174404C>T	GRCh37
NC_000005.8:g.112202303C>T	NCBI36
NG_008481.4:g.151187C>T , LRG_130:g.151187C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2778C>T	ENSP00000484935.2:n.2778C>T
ENST00000504915.3:c.3167C>T	ENSP00000473355.2:p.Ser1056Phe
ENST00000505350.2:c.*3119C>T	ENSP00000481752.1:n.*3119C>T
ENST00000507379.6:c.3059C>T	ENSP00000423224.2:p.Ser1020Phe
ENST00000509732.6:c.3113C>T	ENSP00000426541.2:p.Ser1038Phe
ENST00000512211.7:c.3113C>T	ENSP00000423828.3:p.Ser1038Phe
ENST00000257430.9:c.3113C>T MANE Select	ENSP00000257430.4:p.Ser1038Phe
ENST00000257430.8:c.3113C>T	ENSP00000257430.4:p.Ser1038Phe
ENST00000502371.2:c.1466C>T
ENST00000507379.5:c.3059C>T	ENSP00000423224.1:p.Ser1020Phe
ENST00000508376.6:c.3113C>T	ENSP00000427089.2:p.Ser1038Phe
ENST00000508624.5:c.*2435C>T	ENSP00000424265.1:n.*2435C>T
ENST00000512211.6:c.3113C>T	ENSP00000423828.2:p.Ser1038Phe
ENST00000520401.1:c.230+9735C>T
NM_000038.5:c.3113C>T	NP_000029.2:p.Ser1038Phe
NM_001127510.2:c.3113C>T	NP_001120982.1:p.Ser1038Phe
NM_001127511.2:c.3059C>T	NP_001120983.2:p.Ser1020Phe
NM_001354895.1:c.3113C>T	NP_001341824.1:p.Ser1038Phe
NM_001354896.1:c.3167C>T	NP_001341825.1:p.Ser1056Phe
NM_001354897.1:c.3143C>T	NP_001341826.1:p.Ser1048Phe
NM_001354898.1:c.3038C>T	NP_001341827.1:p.Ser1013Phe
NM_001354899.1:c.3029C>T	NP_001341828.1:p.Ser1010Phe
NM_001354900.1:c.2990C>T	NP_001341829.1:p.Ser997Phe
NM_001354901.1:c.2936C>T	NP_001341830.1:p.Ser979Phe
NM_001354902.1:c.2840C>T	NP_001341831.1:p.Ser947Phe
NM_001354903.1:c.2810C>T	NP_001341832.1:p.Ser937Phe
NM_001354904.1:c.2735C>T	NP_001341833.1:p.Ser912Phe
NM_001354905.1:c.2633C>T	NP_001341834.1:p.Ser878Phe
NM_001354906.1:c.2264C>T	NP_001341835.1:p.Ser755Phe
NM_000038.6:c.3113C>T MANE Select	NP_000029.2:p.Ser1038Phe
NM_001127510.3:c.3113C>T	NP_001120982.1:p.Ser1038Phe
NM_001127511.3:c.3059C>T	NP_001120983.2:p.Ser1020Phe
NM_001354895.2:c.3113C>T	NP_001341824.1:p.Ser1038Phe
NM_001354896.2:c.3167C>T	NP_001341825.1:p.Ser1056Phe
NM_001354897.2:c.3143C>T	NP_001341826.1:p.Ser1048Phe
NM_001354898.2:c.3038C>T	NP_001341827.1:p.Ser1013Phe
NM_001354899.2:c.3029C>T	NP_001341828.1:p.Ser1010Phe
NM_001354900.2:c.2990C>T	NP_001341829.1:p.Ser997Phe
NM_001354901.2:c.2936C>T	NP_001341830.1:p.Ser979Phe
NM_001354902.2:c.2840C>T	NP_001341831.1:p.Ser947Phe
NM_001354903.2:c.2810C>T	NP_001341832.1:p.Ser937Phe
NM_001354904.2:c.2735C>T	NP_001341833.1:p.Ser912Phe
NM_001354905.2:c.2633C>T	NP_001341834.1:p.Ser878Phe
NM_001354906.2:c.2264C>T	NP_001341835.1:p.Ser755Phe