Canonical Allele Identifier: CA16036756

Gene: APC

Linked Data

• ClinVar Variation Id: 2587029
• ClinVar RCV Id: RCV003339110
• dbSNP Id: rs2149979626
• MyVariant Identifiers: chr5:g.112178372T>C (hg19) ; chr5:g.112842675T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7135T>C	ENSP00000473355.2:p.Ser2379Pro
ENST00000505350.2:c.*7087T>C	ENSP00000481752.1:n.*7087T>C
ENST00000507379.6:c.7027T>C	ENSP00000423224.2:p.Ser2343Pro
ENST00000509732.6:c.7081T>C	ENSP00000426541.2:p.Ser2361Pro
ENST00000512211.7:c.7081T>C	ENSP00000423828.3:p.Ser2361Pro
ENST00000257430.9:c.7081T>C MANE Select	ENSP00000257430.4:p.Ser2361Pro
ENST00000257430.8:c.7081T>C	ENSP00000257430.4:p.Ser2361Pro
ENST00000508376.6:c.7081T>C	ENSP00000427089.2:p.Ser2361Pro
ENST00000508624.5:c.*6403T>C	ENSP00000424265.1:n.*6403T>C
ENST00000520401.1:c.230+13703T>C
NM_000038.5:c.7081T>C	NP_000029.2:p.Ser2361Pro
NM_001127510.2:c.7081T>C	NP_001120982.1:p.Ser2361Pro
NM_001127511.2:c.7027T>C	NP_001120983.2:p.Ser2343Pro
NM_001354895.1:c.7081T>C	NP_001341824.1:p.Ser2361Pro
NM_001354896.1:c.7135T>C	NP_001341825.1:p.Ser2379Pro
NM_001354897.1:c.7111T>C	NP_001341826.1:p.Ser2371Pro
NM_001354898.1:c.7006T>C	NP_001341827.1:p.Ser2336Pro
NM_001354899.1:c.6997T>C	NP_001341828.1:p.Ser2333Pro
NM_001354900.1:c.6958T>C	NP_001341829.1:p.Ser2320Pro
NM_001354901.1:c.6904T>C	NP_001341830.1:p.Ser2302Pro
NM_001354902.1:c.6808T>C	NP_001341831.1:p.Ser2270Pro
NM_001354903.1:c.6778T>C	NP_001341832.1:p.Ser2260Pro
NM_001354904.1:c.6703T>C	NP_001341833.1:p.Ser2235Pro
NM_001354905.1:c.6601T>C	NP_001341834.1:p.Ser2201Pro
NM_001354906.1:c.6232T>C	NP_001341835.1:p.Ser2078Pro
NM_000038.6:c.7081T>C MANE Select	NP_000029.2:p.Ser2361Pro
NM_001127510.3:c.7081T>C	NP_001120982.1:p.Ser2361Pro
NM_001127511.3:c.7027T>C	NP_001120983.2:p.Ser2343Pro
NM_001354895.2:c.7081T>C	NP_001341824.1:p.Ser2361Pro
NM_001354896.2:c.7135T>C	NP_001341825.1:p.Ser2379Pro
NM_001354897.2:c.7111T>C	NP_001341826.1:p.Ser2371Pro
NM_001354898.2:c.7006T>C	NP_001341827.1:p.Ser2336Pro
NM_001354899.2:c.6997T>C	NP_001341828.1:p.Ser2333Pro
NM_001354900.2:c.6958T>C	NP_001341829.1:p.Ser2320Pro
NM_001354901.2:c.6904T>C	NP_001341830.1:p.Ser2302Pro
NM_001354902.2:c.6808T>C	NP_001341831.1:p.Ser2270Pro
NM_001354903.2:c.6778T>C	NP_001341832.1:p.Ser2260Pro
NM_001354904.2:c.6703T>C	NP_001341833.1:p.Ser2235Pro
NM_001354905.2:c.6601T>C	NP_001341834.1:p.Ser2201Pro
NM_001354906.2:c.6232T>C	NP_001341835.1:p.Ser2078Pro