Canonical Allele Identifier: CA16025192

Gene: APC

Linked Data

• dbSNP Id: rs2149841228
• gnomAD v4: 5-112834979-C-T
• MyVariant Identifiers: chr5:g.112170676C>T (hg19) ; chr5:g.112834979C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112834979C>T , CM000667.2:g.112834979C>T	GRCh38
NC_000005.9:g.112170676C>T , CM000667.1:g.112170676C>T	GRCh37
NC_000005.8:g.112198575C>T	NCBI36
NG_008481.4:g.147459C>T , LRG_130:g.147459C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1437C>T	ENSP00000484935.2:p.Cys479=
ENST00000504915.3:c.1826C>T	ENSP00000473355.2:p.Ala609Val
ENST00000505350.2:c.*1778C>T	ENSP00000481752.1:n.*1778C>T
ENST00000507379.6:c.1718C>T	ENSP00000423224.2:p.Ala573Val
ENST00000509732.6:c.1772C>T	ENSP00000426541.2:p.Ala591Val
ENST00000512211.7:c.1772C>T	ENSP00000423828.3:p.Ala591Val
ENST00000257430.9:c.1772C>T MANE Select	ENSP00000257430.4:p.Ala591Val
ENST00000257430.8:c.1772C>T	ENSP00000257430.4:p.Ala591Val
ENST00000502371.2:c.125C>T
ENST00000504915.2:c.461C>T	ENSP00000473355.1:p.Ala154Val
ENST00000507379.5:c.1718C>T	ENSP00000423224.1:p.Ala573Val
ENST00000508376.6:c.1772C>T	ENSP00000427089.2:p.Ala591Val
ENST00000508624.5:c.*1094C>T	ENSP00000424265.1:n.*1094C>T
ENST00000512211.6:c.1772C>T	ENSP00000423828.2:p.Ala591Val
ENST00000520401.1:c.230+6007C>T
NM_000038.5:c.1772C>T	NP_000029.2:p.Ala591Val
NM_001127510.2:c.1772C>T	NP_001120982.1:p.Ala591Val
NM_001127511.2:c.1718C>T	NP_001120983.2:p.Ala573Val
NM_001354895.1:c.1772C>T	NP_001341824.1:p.Ala591Val
NM_001354896.1:c.1826C>T	NP_001341825.1:p.Ala609Val
NM_001354897.1:c.1802C>T	NP_001341826.1:p.Ala601Val
NM_001354898.1:c.1697C>T	NP_001341827.1:p.Ala566Val
NM_001354899.1:c.1688C>T	NP_001341828.1:p.Ala563Val
NM_001354900.1:c.1649C>T	NP_001341829.1:p.Ala550Val
NM_001354901.1:c.1595C>T	NP_001341830.1:p.Ala532Val
NM_001354902.1:c.1499C>T	NP_001341831.1:p.Ala500Val
NM_001354903.1:c.1469C>T	NP_001341832.1:p.Ala490Val
NM_001354904.1:c.1394C>T	NP_001341833.1:p.Ala465Val
NM_001354905.1:c.1292C>T	NP_001341834.1:p.Ala431Val
NM_001354906.1:c.923C>T	NP_001341835.1:p.Ala308Val
NM_000038.6:c.1772C>T MANE Select	NP_000029.2:p.Ala591Val
NM_001127510.3:c.1772C>T	NP_001120982.1:p.Ala591Val
NM_001127511.3:c.1718C>T	NP_001120983.2:p.Ala573Val
NM_001354895.2:c.1772C>T	NP_001341824.1:p.Ala591Val
NM_001354896.2:c.1826C>T	NP_001341825.1:p.Ala609Val
NM_001354897.2:c.1802C>T	NP_001341826.1:p.Ala601Val
NM_001354898.2:c.1697C>T	NP_001341827.1:p.Ala566Val
NM_001354899.2:c.1688C>T	NP_001341828.1:p.Ala563Val
NM_001354900.2:c.1649C>T	NP_001341829.1:p.Ala550Val
NM_001354901.2:c.1595C>T	NP_001341830.1:p.Ala532Val
NM_001354902.2:c.1499C>T	NP_001341831.1:p.Ala500Val
NM_001354903.2:c.1469C>T	NP_001341832.1:p.Ala490Val
NM_001354904.2:c.1394C>T	NP_001341833.1:p.Ala465Val
NM_001354905.2:c.1292C>T	NP_001341834.1:p.Ala431Val
NM_001354906.2:c.923C>T	NP_001341835.1:p.Ala308Val