Canonical Allele Identifier: CA046501

Gene: APC

Linked Data

• ClinVar Variation Id: 232817
• ClinVar RCV Id: RCV000215442
• dbSNP Id: rs560565848
• ExAC: 5:112178241 T / C
• gnomAD v2: 5-112178241-T-C
• gnomAD v3: 5-112842544-T-C
• gnomAD v4: 5-112842544-T-C
• MyVariant Identifiers: chr5:g.112178241T>C (hg19) ; chr5:g.112842544T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842544T>C , CM000667.2:g.112842544T>C	GRCh38
NC_000005.9:g.112178241T>C , CM000667.1:g.112178241T>C	GRCh37
NC_000005.8:g.112206140T>C	NCBI36
NG_008481.4:g.155024T>C , LRG_130:g.155024T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7004T>C	ENSP00000473355.2:p.Leu2335Ser
ENST00000505350.2:c.*6956T>C	ENSP00000481752.1:n.*6956T>C
ENST00000507379.6:c.6896T>C	ENSP00000423224.2:p.Leu2299Ser
ENST00000509732.6:c.6950T>C	ENSP00000426541.2:p.Leu2317Ser
ENST00000512211.7:c.6950T>C	ENSP00000423828.3:p.Leu2317Ser
ENST00000257430.9:c.6950T>C MANE Select	ENSP00000257430.4:p.Leu2317Ser
ENST00000257430.8:c.6950T>C	ENSP00000257430.4:p.Leu2317Ser
ENST00000508376.6:c.6950T>C	ENSP00000427089.2:p.Leu2317Ser
ENST00000508624.5:c.*6272T>C	ENSP00000424265.1:n.*6272T>C
ENST00000520401.1:c.230+13572T>C
NM_000038.5:c.6950T>C	NP_000029.2:p.Leu2317Ser
NM_001127510.2:c.6950T>C	NP_001120982.1:p.Leu2317Ser
NM_001127511.2:c.6896T>C	NP_001120983.2:p.Leu2299Ser
NM_001354895.1:c.6950T>C	NP_001341824.1:p.Leu2317Ser
NM_001354896.1:c.7004T>C	NP_001341825.1:p.Leu2335Ser
NM_001354897.1:c.6980T>C	NP_001341826.1:p.Leu2327Ser
NM_001354898.1:c.6875T>C	NP_001341827.1:p.Leu2292Ser
NM_001354899.1:c.6866T>C	NP_001341828.1:p.Leu2289Ser
NM_001354900.1:c.6827T>C	NP_001341829.1:p.Leu2276Ser
NM_001354901.1:c.6773T>C	NP_001341830.1:p.Leu2258Ser
NM_001354902.1:c.6677T>C	NP_001341831.1:p.Leu2226Ser
NM_001354903.1:c.6647T>C	NP_001341832.1:p.Leu2216Ser
NM_001354904.1:c.6572T>C	NP_001341833.1:p.Leu2191Ser
NM_001354905.1:c.6470T>C	NP_001341834.1:p.Leu2157Ser
NM_001354906.1:c.6101T>C	NP_001341835.1:p.Leu2034Ser
NM_000038.6:c.6950T>C MANE Select	NP_000029.2:p.Leu2317Ser
NM_001127510.3:c.6950T>C	NP_001120982.1:p.Leu2317Ser
NM_001127511.3:c.6896T>C	NP_001120983.2:p.Leu2299Ser
NM_001354895.2:c.6950T>C	NP_001341824.1:p.Leu2317Ser
NM_001354896.2:c.7004T>C	NP_001341825.1:p.Leu2335Ser
NM_001354897.2:c.6980T>C	NP_001341826.1:p.Leu2327Ser
NM_001354898.2:c.6875T>C	NP_001341827.1:p.Leu2292Ser
NM_001354899.2:c.6866T>C	NP_001341828.1:p.Leu2289Ser
NM_001354900.2:c.6827T>C	NP_001341829.1:p.Leu2276Ser
NM_001354901.2:c.6773T>C	NP_001341830.1:p.Leu2258Ser
NM_001354902.2:c.6677T>C	NP_001341831.1:p.Leu2226Ser
NM_001354903.2:c.6647T>C	NP_001341832.1:p.Leu2216Ser
NM_001354904.2:c.6572T>C	NP_001341833.1:p.Leu2191Ser
NM_001354905.2:c.6470T>C	NP_001341834.1:p.Leu2157Ser
NM_001354906.2:c.6101T>C	NP_001341835.1:p.Leu2034Ser