Canonical Allele Identifier: CA006287

Gene: APC

Linked Data

• ClinVar Variation Id: 181791
• ClinVar RCV Id: RCV000159537 ; RCV000491278 ; RCV000766428 ; RCV001353861 ; RCV003998407 ; RCV003534402
• dbSNP Id: rs730881239
• gnomAD v2: 5-112170808-G-C
• gnomAD v3: 5-112835111-G-C
• gnomAD v4: 5-112835111-G-C
• MyVariant Identifiers: chr5:g.112170808G>C (hg19) ; chr5:g.112835111G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835111G>C , CM000667.2:g.112835111G>C	GRCh38
NC_000005.9:g.112170808G>C , CM000667.1:g.112170808G>C	GRCh37
NC_000005.8:g.112198707G>C	NCBI36
NG_008481.4:g.147591G>C , LRG_130:g.147591G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1569G>C	ENSP00000484935.2:n.1569G>C
ENST00000504915.3:c.1958G>C	ENSP00000473355.2:p.Gly653Ala
ENST00000505350.2:c.*1910G>C	ENSP00000481752.1:n.*1910G>C
ENST00000507379.6:c.1850G>C	ENSP00000423224.2:p.Gly617Ala
ENST00000509732.6:c.1904G>C	ENSP00000426541.2:p.Gly635Ala
ENST00000512211.7:c.1904G>C	ENSP00000423828.3:p.Gly635Ala
ENST00000257430.9:c.1904G>C MANE Select	ENSP00000257430.4:p.Gly635Ala
ENST00000257430.8:c.1904G>C	ENSP00000257430.4:p.Gly635Ala
ENST00000502371.2:c.257G>C
ENST00000504915.2:c.593G>C	ENSP00000473355.1:p.Gly198Ala
ENST00000507379.5:c.1850G>C	ENSP00000423224.1:p.Gly617Ala
ENST00000508376.6:c.1904G>C	ENSP00000427089.2:p.Gly635Ala
ENST00000508624.5:c.*1226G>C	ENSP00000424265.1:n.*1226G>C
ENST00000512211.6:c.1904G>C	ENSP00000423828.2:p.Gly635Ala
ENST00000520401.1:c.230+6139G>C
NM_000038.5:c.1904G>C	NP_000029.2:p.Gly635Ala
NM_001127510.2:c.1904G>C	NP_001120982.1:p.Gly635Ala
NM_001127511.2:c.1850G>C	NP_001120983.2:p.Gly617Ala
NM_001354895.1:c.1904G>C	NP_001341824.1:p.Gly635Ala
NM_001354896.1:c.1958G>C	NP_001341825.1:p.Gly653Ala
NM_001354897.1:c.1934G>C	NP_001341826.1:p.Gly645Ala
NM_001354898.1:c.1829G>C	NP_001341827.1:p.Gly610Ala
NM_001354899.1:c.1820G>C	NP_001341828.1:p.Gly607Ala
NM_001354900.1:c.1781G>C	NP_001341829.1:p.Gly594Ala
NM_001354901.1:c.1727G>C	NP_001341830.1:p.Gly576Ala
NM_001354902.1:c.1631G>C	NP_001341831.1:p.Gly544Ala
NM_001354903.1:c.1601G>C	NP_001341832.1:p.Gly534Ala
NM_001354904.1:c.1526G>C	NP_001341833.1:p.Gly509Ala
NM_001354905.1:c.1424G>C	NP_001341834.1:p.Gly475Ala
NM_001354906.1:c.1055G>C	NP_001341835.1:p.Gly352Ala
NM_000038.6:c.1904G>C MANE Select	NP_000029.2:p.Gly635Ala
NM_001127510.3:c.1904G>C	NP_001120982.1:p.Gly635Ala
NM_001127511.3:c.1850G>C	NP_001120983.2:p.Gly617Ala
NM_001354895.2:c.1904G>C	NP_001341824.1:p.Gly635Ala
NM_001354896.2:c.1958G>C	NP_001341825.1:p.Gly653Ala
NM_001354897.2:c.1934G>C	NP_001341826.1:p.Gly645Ala
NM_001354898.2:c.1829G>C	NP_001341827.1:p.Gly610Ala
NM_001354899.2:c.1820G>C	NP_001341828.1:p.Gly607Ala
NM_001354900.2:c.1781G>C	NP_001341829.1:p.Gly594Ala
NM_001354901.2:c.1727G>C	NP_001341830.1:p.Gly576Ala
NM_001354902.2:c.1631G>C	NP_001341831.1:p.Gly544Ala
NM_001354903.2:c.1601G>C	NP_001341832.1:p.Gly534Ala
NM_001354904.2:c.1526G>C	NP_001341833.1:p.Gly509Ala
NM_001354905.2:c.1424G>C	NP_001341834.1:p.Gly475Ala
NM_001354906.2:c.1055G>C	NP_001341835.1:p.Gly352Ala