Canonical Allele Identifier: CA16023330

Gene: APC

Linked Data

• gnomAD v4: 5-112815583-T-A
• MyVariant Identifiers: chr5:g.112151280T>A (hg19) ; chr5:g.112815583T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112815583T>A , CM000667.2:g.112815583T>A	GRCh38
NC_000005.9:g.112151280T>A , CM000667.1:g.112151280T>A	GRCh37
NC_000005.8:g.112179179T>A	NCBI36
NG_008481.4:g.128063T>A , LRG_130:g.128063T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.923T>A	ENSP00000484935.2:p.Leu308Gln
ENST00000504915.3:c.923T>A	ENSP00000473355.2:p.Leu308Gln
ENST00000505084.2:n.979T>A
ENST00000505350.2:c.*929T>A	ENSP00000481752.1:n.*929T>A
ENST00000507379.6:c.869T>A	ENSP00000423224.2:p.Leu290Gln
ENST00000509732.6:c.923T>A	ENSP00000426541.2:p.Leu308Gln
ENST00000512211.7:c.923T>A	ENSP00000423828.3:p.Leu308Gln
ENST00000257430.9:c.923T>A MANE Select	ENSP00000257430.4:p.Leu308Gln
ENST00000257430.8:c.923T>A	ENSP00000257430.4:p.Leu308Gln
ENST00000507379.5:c.869T>A	ENSP00000423224.1:p.Leu290Gln
ENST00000508376.6:c.923T>A	ENSP00000427089.2:p.Leu308Gln
ENST00000508624.5:c.*245T>A	ENSP00000424265.1:n.*245T>A
ENST00000512211.6:c.923T>A	ENSP00000423828.2:p.Leu308Gln
NM_000038.5:c.923T>A	NP_000029.2:p.Leu308Gln
NM_001127510.2:c.923T>A	NP_001120982.1:p.Leu308Gln
NM_001127511.2:c.869T>A	NP_001120983.2:p.Leu290Gln
NM_001354895.1:c.923T>A	NP_001341824.1:p.Leu308Gln
NM_001354896.1:c.923T>A	NP_001341825.1:p.Leu308Gln
NM_001354897.1:c.953T>A	NP_001341826.1:p.Leu318Gln
NM_001354898.1:c.848T>A	NP_001341827.1:p.Leu283Gln
NM_001354899.1:c.839T>A	NP_001341828.1:p.Leu280Gln
NM_001354900.1:c.746T>A	NP_001341829.1:p.Leu249Gln
NM_001354901.1:c.746T>A	NP_001341830.1:p.Leu249Gln
NM_001354902.1:c.953T>A	NP_001341831.1:p.Leu318Gln
NM_001354903.1:c.923T>A	NP_001341832.1:p.Leu308Gln
NM_001354904.1:c.848T>A	NP_001341833.1:p.Leu283Gln
NM_001354905.1:c.746T>A	NP_001341834.1:p.Leu249Gln
NM_001354906.1:c.74T>A	NP_001341835.1:p.Leu25Gln
NM_000038.6:c.923T>A MANE Select	NP_000029.2:p.Leu308Gln
NM_001127510.3:c.923T>A	NP_001120982.1:p.Leu308Gln
NM_001127511.3:c.869T>A	NP_001120983.2:p.Leu290Gln
NM_001354895.2:c.923T>A	NP_001341824.1:p.Leu308Gln
NM_001354896.2:c.923T>A	NP_001341825.1:p.Leu308Gln
NM_001354897.2:c.953T>A	NP_001341826.1:p.Leu318Gln
NM_001354898.2:c.848T>A	NP_001341827.1:p.Leu283Gln
NM_001354899.2:c.839T>A	NP_001341828.1:p.Leu280Gln
NM_001354900.2:c.746T>A	NP_001341829.1:p.Leu249Gln
NM_001354901.2:c.746T>A	NP_001341830.1:p.Leu249Gln
NM_001354902.2:c.953T>A	NP_001341831.1:p.Leu318Gln
NM_001354903.2:c.923T>A	NP_001341832.1:p.Leu308Gln
NM_001354904.2:c.848T>A	NP_001341833.1:p.Leu283Gln
NM_001354905.2:c.746T>A	NP_001341834.1:p.Leu249Gln
NM_001354906.2:c.74T>A	NP_001341835.1:p.Leu25Gln