Canonical Allele Identifier: CA16036858

Gene: APC

Linked Data

• ClinVar Variation Id: 852832
• ClinVar RCV Id: RCV002374935 ; RCV003649349
• dbSNP Id: rs1766383417
• gnomAD v4: 5-112842723-A-C
• MyVariant Identifiers: chr5:g.112178420A>C (hg19) ; chr5:g.112842723A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842723A>C , CM000667.2:g.112842723A>C	GRCh38
NC_000005.9:g.112178420A>C , CM000667.1:g.112178420A>C	GRCh37
NC_000005.8:g.112206319A>C	NCBI36
NG_008481.4:g.155203A>C , LRG_130:g.155203A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7183A>C	ENSP00000473355.2:p.Asn2395His
ENST00000505350.2:c.*7135A>C	ENSP00000481752.1:n.*7135A>C
ENST00000507379.6:c.7075A>C	ENSP00000423224.2:p.Asn2359His
ENST00000509732.6:c.7129A>C	ENSP00000426541.2:p.Asn2377His
ENST00000512211.7:c.7129A>C	ENSP00000423828.3:p.Asn2377His
ENST00000257430.9:c.7129A>C MANE Select	ENSP00000257430.4:p.Asn2377His
ENST00000257430.8:c.7129A>C	ENSP00000257430.4:p.Asn2377His
ENST00000508376.6:c.7129A>C	ENSP00000427089.2:p.Asn2377His
ENST00000508624.5:c.*6451A>C	ENSP00000424265.1:n.*6451A>C
ENST00000520401.1:c.230+13751A>C
NM_000038.5:c.7129A>C	NP_000029.2:p.Asn2377His
NM_001127510.2:c.7129A>C	NP_001120982.1:p.Asn2377His
NM_001127511.2:c.7075A>C	NP_001120983.2:p.Asn2359His
NM_001354895.1:c.7129A>C	NP_001341824.1:p.Asn2377His
NM_001354896.1:c.7183A>C	NP_001341825.1:p.Asn2395His
NM_001354897.1:c.7159A>C	NP_001341826.1:p.Asn2387His
NM_001354898.1:c.7054A>C	NP_001341827.1:p.Asn2352His
NM_001354899.1:c.7045A>C	NP_001341828.1:p.Asn2349His
NM_001354900.1:c.7006A>C	NP_001341829.1:p.Asn2336His
NM_001354901.1:c.6952A>C	NP_001341830.1:p.Asn2318His
NM_001354902.1:c.6856A>C	NP_001341831.1:p.Asn2286His
NM_001354903.1:c.6826A>C	NP_001341832.1:p.Asn2276His
NM_001354904.1:c.6751A>C	NP_001341833.1:p.Asn2251His
NM_001354905.1:c.6649A>C	NP_001341834.1:p.Asn2217His
NM_001354906.1:c.6280A>C	NP_001341835.1:p.Asn2094His
NM_000038.6:c.7129A>C MANE Select	NP_000029.2:p.Asn2377His
NM_001127510.3:c.7129A>C	NP_001120982.1:p.Asn2377His
NM_001127511.3:c.7075A>C	NP_001120983.2:p.Asn2359His
NM_001354895.2:c.7129A>C	NP_001341824.1:p.Asn2377His
NM_001354896.2:c.7183A>C	NP_001341825.1:p.Asn2395His
NM_001354897.2:c.7159A>C	NP_001341826.1:p.Asn2387His
NM_001354898.2:c.7054A>C	NP_001341827.1:p.Asn2352His
NM_001354899.2:c.7045A>C	NP_001341828.1:p.Asn2349His
NM_001354900.2:c.7006A>C	NP_001341829.1:p.Asn2336His
NM_001354901.2:c.6952A>C	NP_001341830.1:p.Asn2318His
NM_001354902.2:c.6856A>C	NP_001341831.1:p.Asn2286His
NM_001354903.2:c.6826A>C	NP_001341832.1:p.Asn2276His
NM_001354904.2:c.6751A>C	NP_001341833.1:p.Asn2251His
NM_001354905.2:c.6649A>C	NP_001341834.1:p.Asn2217His
NM_001354906.2:c.6280A>C	NP_001341835.1:p.Asn2094His