Canonical Allele Identifier: CA16031691

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112176015T>A (hg19) ; chr5:g.112840318T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840318T>A , CM000667.2:g.112840318T>A	GRCh38
NC_000005.9:g.112176015T>A , CM000667.1:g.112176015T>A	GRCh37
NC_000005.8:g.112203914T>A	NCBI36
NG_008481.4:g.152798T>A , LRG_130:g.152798T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4778T>A	ENSP00000473355.2:p.Leu1593Gln
ENST00000505350.2:c.*4730T>A	ENSP00000481752.1:n.*4730T>A
ENST00000507379.6:c.4670T>A	ENSP00000423224.2:p.Leu1557Gln
ENST00000509732.6:c.4724T>A	ENSP00000426541.2:p.Leu1575Gln
ENST00000512211.7:c.4724T>A	ENSP00000423828.3:p.Leu1575Gln
ENST00000257430.9:c.4724T>A MANE Select	ENSP00000257430.4:p.Leu1575Gln
ENST00000257430.8:c.4724T>A	ENSP00000257430.4:p.Leu1575Gln
ENST00000508376.6:c.4724T>A	ENSP00000427089.2:p.Leu1575Gln
ENST00000508624.5:c.*4046T>A	ENSP00000424265.1:n.*4046T>A
ENST00000520401.1:c.230+11346T>A
NM_000038.5:c.4724T>A	NP_000029.2:p.Leu1575Gln
NM_001127510.2:c.4724T>A	NP_001120982.1:p.Leu1575Gln
NM_001127511.2:c.4670T>A	NP_001120983.2:p.Leu1557Gln
NM_001354895.1:c.4724T>A	NP_001341824.1:p.Leu1575Gln
NM_001354896.1:c.4778T>A	NP_001341825.1:p.Leu1593Gln
NM_001354897.1:c.4754T>A	NP_001341826.1:p.Leu1585Gln
NM_001354898.1:c.4649T>A	NP_001341827.1:p.Leu1550Gln
NM_001354899.1:c.4640T>A	NP_001341828.1:p.Leu1547Gln
NM_001354900.1:c.4601T>A	NP_001341829.1:p.Leu1534Gln
NM_001354901.1:c.4547T>A	NP_001341830.1:p.Leu1516Gln
NM_001354902.1:c.4451T>A	NP_001341831.1:p.Leu1484Gln
NM_001354903.1:c.4421T>A	NP_001341832.1:p.Leu1474Gln
NM_001354904.1:c.4346T>A	NP_001341833.1:p.Leu1449Gln
NM_001354905.1:c.4244T>A	NP_001341834.1:p.Leu1415Gln
NM_001354906.1:c.3875T>A	NP_001341835.1:p.Leu1292Gln
NM_000038.6:c.4724T>A MANE Select	NP_000029.2:p.Leu1575Gln
NM_001127510.3:c.4724T>A	NP_001120982.1:p.Leu1575Gln
NM_001127511.3:c.4670T>A	NP_001120983.2:p.Leu1557Gln
NM_001354895.2:c.4724T>A	NP_001341824.1:p.Leu1575Gln
NM_001354896.2:c.4778T>A	NP_001341825.1:p.Leu1593Gln
NM_001354897.2:c.4754T>A	NP_001341826.1:p.Leu1585Gln
NM_001354898.2:c.4649T>A	NP_001341827.1:p.Leu1550Gln
NM_001354899.2:c.4640T>A	NP_001341828.1:p.Leu1547Gln
NM_001354900.2:c.4601T>A	NP_001341829.1:p.Leu1534Gln
NM_001354901.2:c.4547T>A	NP_001341830.1:p.Leu1516Gln
NM_001354902.2:c.4451T>A	NP_001341831.1:p.Leu1484Gln
NM_001354903.2:c.4421T>A	NP_001341832.1:p.Leu1474Gln
NM_001354904.2:c.4346T>A	NP_001341833.1:p.Leu1449Gln
NM_001354905.2:c.4244T>A	NP_001341834.1:p.Leu1415Gln
NM_001354906.2:c.3875T>A	NP_001341835.1:p.Leu1292Gln