Canonical Allele Identifier: CA006193

Gene: APC

Linked Data

• ClinVar Variation Id: 135686
• ClinVar RCV Id: RCV000122760 ; RCV000568132
• dbSNP Id: rs72541808
• ExAC: 5:112170767 T / C
• gnomAD v2: 5-112170767-T-C
• gnomAD v3: 5-112835070-T-C
• gnomAD v4: 5-112835070-T-C
• MyVariant Identifiers: chr5:g.112170767T>C (hg19) ; chr5:g.112835070T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835070T>C , CM000667.2:g.112835070T>C	GRCh38
NC_000005.9:g.112170767T>C , CM000667.1:g.112170767T>C	GRCh37
NC_000005.8:g.112198666T>C	NCBI36
NG_008481.4:g.147550T>C , LRG_130:g.147550T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1528T>C	ENSP00000484935.2:n.1528T>C
ENST00000504915.3:c.1917T>C	ENSP00000473355.2:p.Thr639=
ENST00000505350.2:c.*1869T>C	ENSP00000481752.1:n.*1869T>C
ENST00000507379.6:c.1809T>C	ENSP00000423224.2:p.Thr603=
ENST00000509732.6:c.1863T>C	ENSP00000426541.2:p.Thr621=
ENST00000512211.7:c.1863T>C	ENSP00000423828.3:p.Thr621=
ENST00000257430.9:c.1863T>C MANE Select	ENSP00000257430.4:p.Thr621=
ENST00000257430.8:c.1863T>C	ENSP00000257430.4:p.Thr621=
ENST00000502371.2:c.216T>C
ENST00000504915.2:c.552T>C	ENSP00000473355.1:p.Thr184=
ENST00000507379.5:c.1809T>C	ENSP00000423224.1:p.Thr603=
ENST00000508376.6:c.1863T>C	ENSP00000427089.2:p.Thr621=
ENST00000508624.5:c.*1185T>C	ENSP00000424265.1:n.*1185T>C
ENST00000512211.6:c.1863T>C	ENSP00000423828.2:p.Thr621=
ENST00000520401.1:c.230+6098T>C
NM_000038.5:c.1863T>C	NP_000029.2:p.Thr621=
NM_001127510.2:c.1863T>C	NP_001120982.1:p.Thr621=
NM_001127511.2:c.1809T>C	NP_001120983.2:p.Thr603=
NM_001354895.1:c.1863T>C	NP_001341824.1:p.Thr621=
NM_001354896.1:c.1917T>C	NP_001341825.1:p.Thr639=
NM_001354897.1:c.1893T>C	NP_001341826.1:p.Thr631=
NM_001354898.1:c.1788T>C	NP_001341827.1:p.Thr596=
NM_001354899.1:c.1779T>C	NP_001341828.1:p.Thr593=
NM_001354900.1:c.1740T>C	NP_001341829.1:p.Thr580=
NM_001354901.1:c.1686T>C	NP_001341830.1:p.Thr562=
NM_001354902.1:c.1590T>C	NP_001341831.1:p.Thr530=
NM_001354903.1:c.1560T>C	NP_001341832.1:p.Thr520=
NM_001354904.1:c.1485T>C	NP_001341833.1:p.Thr495=
NM_001354905.1:c.1383T>C	NP_001341834.1:p.Thr461=
NM_001354906.1:c.1014T>C	NP_001341835.1:p.Thr338=
NM_000038.6:c.1863T>C MANE Select	NP_000029.2:p.Thr621=
NM_001127510.3:c.1863T>C	NP_001120982.1:p.Thr621=
NM_001127511.3:c.1809T>C	NP_001120983.2:p.Thr603=
NM_001354895.2:c.1863T>C	NP_001341824.1:p.Thr621=
NM_001354896.2:c.1917T>C	NP_001341825.1:p.Thr639=
NM_001354897.2:c.1893T>C	NP_001341826.1:p.Thr631=
NM_001354898.2:c.1788T>C	NP_001341827.1:p.Thr596=
NM_001354899.2:c.1779T>C	NP_001341828.1:p.Thr593=
NM_001354900.2:c.1740T>C	NP_001341829.1:p.Thr580=
NM_001354901.2:c.1686T>C	NP_001341830.1:p.Thr562=
NM_001354902.2:c.1590T>C	NP_001341831.1:p.Thr530=
NM_001354903.2:c.1560T>C	NP_001341832.1:p.Thr520=
NM_001354904.2:c.1485T>C	NP_001341833.1:p.Thr495=
NM_001354905.2:c.1383T>C	NP_001341834.1:p.Thr461=
NM_001354906.2:c.1014T>C	NP_001341835.1:p.Thr338=