Canonical Allele Identifier: CA16032057

Gene: APC

Linked Data

• dbSNP Id: rs2149926720
• gnomAD v4: 5-112840488-T-C
• MyVariant Identifiers: chr5:g.112176185T>C (hg19) ; chr5:g.112840488T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840488T>C , CM000667.2:g.112840488T>C	GRCh38
NC_000005.9:g.112176185T>C , CM000667.1:g.112176185T>C	GRCh37
NC_000005.8:g.112204084T>C	NCBI36
NG_008481.4:g.152968T>C , LRG_130:g.152968T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4948T>C	ENSP00000473355.2:p.Phe1650Leu
ENST00000505350.2:c.*4900T>C	ENSP00000481752.1:n.*4900T>C
ENST00000507379.6:c.4840T>C	ENSP00000423224.2:p.Phe1614Leu
ENST00000509732.6:c.4894T>C	ENSP00000426541.2:p.Phe1632Leu
ENST00000512211.7:c.4894T>C	ENSP00000423828.3:p.Phe1632Leu
ENST00000257430.9:c.4894T>C MANE Select	ENSP00000257430.4:p.Phe1632Leu
ENST00000257430.8:c.4894T>C	ENSP00000257430.4:p.Phe1632Leu
ENST00000508376.6:c.4894T>C	ENSP00000427089.2:p.Phe1632Leu
ENST00000508624.5:c.*4216T>C	ENSP00000424265.1:n.*4216T>C
ENST00000520401.1:c.230+11516T>C
NM_000038.5:c.4894T>C	NP_000029.2:p.Phe1632Leu
NM_001127510.2:c.4894T>C	NP_001120982.1:p.Phe1632Leu
NM_001127511.2:c.4840T>C	NP_001120983.2:p.Phe1614Leu
NM_001354895.1:c.4894T>C	NP_001341824.1:p.Phe1632Leu
NM_001354896.1:c.4948T>C	NP_001341825.1:p.Phe1650Leu
NM_001354897.1:c.4924T>C	NP_001341826.1:p.Phe1642Leu
NM_001354898.1:c.4819T>C	NP_001341827.1:p.Phe1607Leu
NM_001354899.1:c.4810T>C	NP_001341828.1:p.Phe1604Leu
NM_001354900.1:c.4771T>C	NP_001341829.1:p.Phe1591Leu
NM_001354901.1:c.4717T>C	NP_001341830.1:p.Phe1573Leu
NM_001354902.1:c.4621T>C	NP_001341831.1:p.Phe1541Leu
NM_001354903.1:c.4591T>C	NP_001341832.1:p.Phe1531Leu
NM_001354904.1:c.4516T>C	NP_001341833.1:p.Phe1506Leu
NM_001354905.1:c.4414T>C	NP_001341834.1:p.Phe1472Leu
NM_001354906.1:c.4045T>C	NP_001341835.1:p.Phe1349Leu
NM_000038.6:c.4894T>C MANE Select	NP_000029.2:p.Phe1632Leu
NM_001127510.3:c.4894T>C	NP_001120982.1:p.Phe1632Leu
NM_001127511.3:c.4840T>C	NP_001120983.2:p.Phe1614Leu
NM_001354895.2:c.4894T>C	NP_001341824.1:p.Phe1632Leu
NM_001354896.2:c.4948T>C	NP_001341825.1:p.Phe1650Leu
NM_001354897.2:c.4924T>C	NP_001341826.1:p.Phe1642Leu
NM_001354898.2:c.4819T>C	NP_001341827.1:p.Phe1607Leu
NM_001354899.2:c.4810T>C	NP_001341828.1:p.Phe1604Leu
NM_001354900.2:c.4771T>C	NP_001341829.1:p.Phe1591Leu
NM_001354901.2:c.4717T>C	NP_001341830.1:p.Phe1573Leu
NM_001354902.2:c.4621T>C	NP_001341831.1:p.Phe1541Leu
NM_001354903.2:c.4591T>C	NP_001341832.1:p.Phe1531Leu
NM_001354904.2:c.4516T>C	NP_001341833.1:p.Phe1506Leu
NM_001354905.2:c.4414T>C	NP_001341834.1:p.Phe1472Leu
NM_001354906.2:c.4045T>C	NP_001341835.1:p.Phe1349Leu