Canonical Allele Identifier: CA446208699

Gene: APC

Linked Data

• dbSNP Id: rs1294390731
• gnomAD v2: 5-112176217-T-C
• gnomAD v4: 5-112840520-T-C
• MyVariant Identifiers: chr5:g.112176217T>C (hg19) ; chr5:g.112840520T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840520T>C , CM000667.2:g.112840520T>C	GRCh38
NC_000005.9:g.112176217T>C , CM000667.1:g.112176217T>C	GRCh37
NC_000005.8:g.112204116T>C	NCBI36
NG_008481.4:g.153000T>C , LRG_130:g.153000T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4980T>C	ENSP00000473355.2:p.Tyr1660=
ENST00000505350.2:c.*4932T>C	ENSP00000481752.1:n.*4932T>C
ENST00000507379.6:c.4872T>C	ENSP00000423224.2:p.Tyr1624=
ENST00000509732.6:c.4926T>C	ENSP00000426541.2:p.Tyr1642=
ENST00000512211.7:c.4926T>C	ENSP00000423828.3:p.Tyr1642=
ENST00000257430.9:c.4926T>C MANE Select	ENSP00000257430.4:p.Tyr1642=
ENST00000257430.8:c.4926T>C	ENSP00000257430.4:p.Tyr1642=
ENST00000508376.6:c.4926T>C	ENSP00000427089.2:p.Tyr1642=
ENST00000508624.5:c.*4248T>C	ENSP00000424265.1:n.*4248T>C
ENST00000520401.1:c.230+11548T>C
NM_000038.5:c.4926T>C	NP_000029.2:p.Tyr1642=
NM_001127510.2:c.4926T>C	NP_001120982.1:p.Tyr1642=
NM_001127511.2:c.4872T>C	NP_001120983.2:p.Tyr1624=
NM_001354895.1:c.4926T>C	NP_001341824.1:p.Tyr1642=
NM_001354896.1:c.4980T>C	NP_001341825.1:p.Tyr1660=
NM_001354897.1:c.4956T>C	NP_001341826.1:p.Tyr1652=
NM_001354898.1:c.4851T>C	NP_001341827.1:p.Tyr1617=
NM_001354899.1:c.4842T>C	NP_001341828.1:p.Tyr1614=
NM_001354900.1:c.4803T>C	NP_001341829.1:p.Tyr1601=
NM_001354901.1:c.4749T>C	NP_001341830.1:p.Tyr1583=
NM_001354902.1:c.4653T>C	NP_001341831.1:p.Tyr1551=
NM_001354903.1:c.4623T>C	NP_001341832.1:p.Tyr1541=
NM_001354904.1:c.4548T>C	NP_001341833.1:p.Tyr1516=
NM_001354905.1:c.4446T>C	NP_001341834.1:p.Tyr1482=
NM_001354906.1:c.4077T>C	NP_001341835.1:p.Tyr1359=
NM_000038.6:c.4926T>C MANE Select	NP_000029.2:p.Tyr1642=
NM_001127510.3:c.4926T>C	NP_001120982.1:p.Tyr1642=
NM_001127511.3:c.4872T>C	NP_001120983.2:p.Tyr1624=
NM_001354895.2:c.4926T>C	NP_001341824.1:p.Tyr1642=
NM_001354896.2:c.4980T>C	NP_001341825.1:p.Tyr1660=
NM_001354897.2:c.4956T>C	NP_001341826.1:p.Tyr1652=
NM_001354898.2:c.4851T>C	NP_001341827.1:p.Tyr1617=
NM_001354899.2:c.4842T>C	NP_001341828.1:p.Tyr1614=
NM_001354900.2:c.4803T>C	NP_001341829.1:p.Tyr1601=
NM_001354901.2:c.4749T>C	NP_001341830.1:p.Tyr1583=
NM_001354902.2:c.4653T>C	NP_001341831.1:p.Tyr1551=
NM_001354903.2:c.4623T>C	NP_001341832.1:p.Tyr1541=
NM_001354904.2:c.4548T>C	NP_001341833.1:p.Tyr1516=
NM_001354905.2:c.4446T>C	NP_001341834.1:p.Tyr1482=
NM_001354906.2:c.4077T>C	NP_001341835.1:p.Tyr1359=