Canonical Allele Identifier: CA048031

Gene: APC

Linked Data

• ClinVar Variation Id: 411426
• ClinVar RCV Id: RCV003766572
• dbSNP Id: rs745307814
• ExAC: 5:112178724 A / C
• gnomAD v2: 5-112178724-A-C
• gnomAD v4: 5-112843027-A-C
• MyVariant Identifiers: chr5:g.112178724A>C (hg19) ; chr5:g.112843027A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843027A>C , CM000667.2:g.112843027A>C	GRCh38
NC_000005.9:g.112178724A>C , CM000667.1:g.112178724A>C	GRCh37
NC_000005.8:g.112206623A>C	NCBI36
NG_008481.4:g.155507A>C , LRG_130:g.155507A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7487A>C	ENSP00000473355.2:p.Gln2496Pro
ENST00000505350.2:c.*7439A>C	ENSP00000481752.1:n.*7439A>C
ENST00000507379.6:c.7379A>C	ENSP00000423224.2:p.Gln2460Pro
ENST00000509732.6:c.7433A>C	ENSP00000426541.2:p.Gln2478Pro
ENST00000512211.7:c.7433A>C	ENSP00000423828.3:p.Gln2478Pro
ENST00000257430.9:c.7433A>C MANE Select	ENSP00000257430.4:p.Gln2478Pro
ENST00000257430.8:c.7433A>C	ENSP00000257430.4:p.Gln2478Pro
ENST00000508376.6:c.7433A>C	ENSP00000427089.2:p.Gln2478Pro
ENST00000520401.1:c.231-13622A>C
NM_000038.5:c.7433A>C	NP_000029.2:p.Gln2478Pro
NM_001127510.2:c.7433A>C	NP_001120982.1:p.Gln2478Pro
NM_001127511.2:c.7379A>C	NP_001120983.2:p.Gln2460Pro
NM_001354895.1:c.7433A>C	NP_001341824.1:p.Gln2478Pro
NM_001354896.1:c.7487A>C	NP_001341825.1:p.Gln2496Pro
NM_001354897.1:c.7463A>C	NP_001341826.1:p.Gln2488Pro
NM_001354898.1:c.7358A>C	NP_001341827.1:p.Gln2453Pro
NM_001354899.1:c.7349A>C	NP_001341828.1:p.Gln2450Pro
NM_001354900.1:c.7310A>C	NP_001341829.1:p.Gln2437Pro
NM_001354901.1:c.7256A>C	NP_001341830.1:p.Gln2419Pro
NM_001354902.1:c.7160A>C	NP_001341831.1:p.Gln2387Pro
NM_001354903.1:c.7130A>C	NP_001341832.1:p.Gln2377Pro
NM_001354904.1:c.7055A>C	NP_001341833.1:p.Gln2352Pro
NM_001354905.1:c.6953A>C	NP_001341834.1:p.Gln2318Pro
NM_001354906.1:c.6584A>C	NP_001341835.1:p.Gln2195Pro
NM_000038.6:c.7433A>C MANE Select	NP_000029.2:p.Gln2478Pro
NM_001127510.3:c.7433A>C	NP_001120982.1:p.Gln2478Pro
NM_001127511.3:c.7379A>C	NP_001120983.2:p.Gln2460Pro
NM_001354895.2:c.7433A>C	NP_001341824.1:p.Gln2478Pro
NM_001354896.2:c.7487A>C	NP_001341825.1:p.Gln2496Pro
NM_001354897.2:c.7463A>C	NP_001341826.1:p.Gln2488Pro
NM_001354898.2:c.7358A>C	NP_001341827.1:p.Gln2453Pro
NM_001354899.2:c.7349A>C	NP_001341828.1:p.Gln2450Pro
NM_001354900.2:c.7310A>C	NP_001341829.1:p.Gln2437Pro
NM_001354901.2:c.7256A>C	NP_001341830.1:p.Gln2419Pro
NM_001354902.2:c.7160A>C	NP_001341831.1:p.Gln2387Pro
NM_001354903.2:c.7130A>C	NP_001341832.1:p.Gln2377Pro
NM_001354904.2:c.7055A>C	NP_001341833.1:p.Gln2352Pro
NM_001354905.2:c.6953A>C	NP_001341834.1:p.Gln2318Pro
NM_001354906.2:c.6584A>C	NP_001341835.1:p.Gln2195Pro