Canonical Allele Identifier: CA16037039

Gene: APC

Linked Data

• ClinVar Variation Id: 482426
• ClinVar RCV Id: RCV003537156 ; RCV000574566
• dbSNP Id: rs1554088132
• MyVariant Identifiers: chr5:g.112178504A>C (hg19) ; chr5:g.112842807A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842807A>C , CM000667.2:g.112842807A>C	GRCh38
NC_000005.9:g.112178504A>C , CM000667.1:g.112178504A>C	GRCh37
NC_000005.8:g.112206403A>C	NCBI36
NG_008481.4:g.155287A>C , LRG_130:g.155287A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7267A>C	ENSP00000473355.2:p.Asn2423His
ENST00000505350.2:c.*7219A>C	ENSP00000481752.1:n.*7219A>C
ENST00000507379.6:c.7159A>C	ENSP00000423224.2:p.Asn2387His
ENST00000509732.6:c.7213A>C	ENSP00000426541.2:p.Asn2405His
ENST00000512211.7:c.7213A>C	ENSP00000423828.3:p.Asn2405His
ENST00000257430.9:c.7213A>C MANE Select	ENSP00000257430.4:p.Asn2405His
ENST00000257430.8:c.7213A>C	ENSP00000257430.4:p.Asn2405His
ENST00000508376.6:c.7213A>C	ENSP00000427089.2:p.Asn2405His
ENST00000520401.1:c.230+13835A>C
NM_000038.5:c.7213A>C	NP_000029.2:p.Asn2405His
NM_001127510.2:c.7213A>C	NP_001120982.1:p.Asn2405His
NM_001127511.2:c.7159A>C	NP_001120983.2:p.Asn2387His
NM_001354895.1:c.7213A>C	NP_001341824.1:p.Asn2405His
NM_001354896.1:c.7267A>C	NP_001341825.1:p.Asn2423His
NM_001354897.1:c.7243A>C	NP_001341826.1:p.Asn2415His
NM_001354898.1:c.7138A>C	NP_001341827.1:p.Asn2380His
NM_001354899.1:c.7129A>C	NP_001341828.1:p.Asn2377His
NM_001354900.1:c.7090A>C	NP_001341829.1:p.Asn2364His
NM_001354901.1:c.7036A>C	NP_001341830.1:p.Asn2346His
NM_001354902.1:c.6940A>C	NP_001341831.1:p.Asn2314His
NM_001354903.1:c.6910A>C	NP_001341832.1:p.Asn2304His
NM_001354904.1:c.6835A>C	NP_001341833.1:p.Asn2279His
NM_001354905.1:c.6733A>C	NP_001341834.1:p.Asn2245His
NM_001354906.1:c.6364A>C	NP_001341835.1:p.Asn2122His
NM_000038.6:c.7213A>C MANE Select	NP_000029.2:p.Asn2405His
NM_001127510.3:c.7213A>C	NP_001120982.1:p.Asn2405His
NM_001127511.3:c.7159A>C	NP_001120983.2:p.Asn2387His
NM_001354895.2:c.7213A>C	NP_001341824.1:p.Asn2405His
NM_001354896.2:c.7267A>C	NP_001341825.1:p.Asn2423His
NM_001354897.2:c.7243A>C	NP_001341826.1:p.Asn2415His
NM_001354898.2:c.7138A>C	NP_001341827.1:p.Asn2380His
NM_001354899.2:c.7129A>C	NP_001341828.1:p.Asn2377His
NM_001354900.2:c.7090A>C	NP_001341829.1:p.Asn2364His
NM_001354901.2:c.7036A>C	NP_001341830.1:p.Asn2346His
NM_001354902.2:c.6940A>C	NP_001341831.1:p.Asn2314His
NM_001354903.2:c.6910A>C	NP_001341832.1:p.Asn2304His
NM_001354904.2:c.6835A>C	NP_001341833.1:p.Asn2279His
NM_001354905.2:c.6733A>C	NP_001341834.1:p.Asn2245His
NM_001354906.2:c.6364A>C	NP_001341835.1:p.Asn2122His