Canonical Allele Identifier: CA446210842

Gene: APC

Linked Data

• dbSNP Id: rs1249303627
• gnomAD v4: 5-112842665-G-A
• MyVariant Identifiers: chr5:g.112178362G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842665G>A , CM000667.2:g.112842665G>A	GRCh38
NC_000005.9:g.112178362G>A , CM000667.1:g.112178362G>A	GRCh37
NC_000005.8:g.112206261G>A	NCBI36
NG_008481.4:g.155145G>A , LRG_130:g.155145G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7125G>A	ENSP00000473355.2:p.Lys2375=
ENST00000505350.2:c.*7077G>A	ENSP00000481752.1:n.*7077G>A
ENST00000507379.6:c.7017G>A	ENSP00000423224.2:p.Lys2339=
ENST00000509732.6:c.7071G>A	ENSP00000426541.2:p.Lys2357=
ENST00000512211.7:c.7071G>A	ENSP00000423828.3:p.Lys2357=
ENST00000257430.9:c.7071G>A MANE Select	ENSP00000257430.4:p.Lys2357=
ENST00000257430.8:c.7071G>A	ENSP00000257430.4:p.Lys2357=
ENST00000508376.6:c.7071G>A	ENSP00000427089.2:p.Lys2357=
ENST00000508624.5:c.*6393G>A	ENSP00000424265.1:n.*6393G>A
ENST00000520401.1:c.230+13693G>A
NM_000038.5:c.7071G>A	NP_000029.2:p.Lys2357=
NM_001127510.2:c.7071G>A	NP_001120982.1:p.Lys2357=
NM_001127511.2:c.7017G>A	NP_001120983.2:p.Lys2339=
NM_001354895.1:c.7071G>A	NP_001341824.1:p.Lys2357=
NM_001354896.1:c.7125G>A	NP_001341825.1:p.Lys2375=
NM_001354897.1:c.7101G>A	NP_001341826.1:p.Lys2367=
NM_001354898.1:c.6996G>A	NP_001341827.1:p.Lys2332=
NM_001354899.1:c.6987G>A	NP_001341828.1:p.Lys2329=
NM_001354900.1:c.6948G>A	NP_001341829.1:p.Lys2316=
NM_001354901.1:c.6894G>A	NP_001341830.1:p.Lys2298=
NM_001354902.1:c.6798G>A	NP_001341831.1:p.Lys2266=
NM_001354903.1:c.6768G>A	NP_001341832.1:p.Lys2256=
NM_001354904.1:c.6693G>A	NP_001341833.1:p.Lys2231=
NM_001354905.1:c.6591G>A	NP_001341834.1:p.Lys2197=
NM_001354906.1:c.6222G>A	NP_001341835.1:p.Lys2074=
NM_000038.6:c.7071G>A MANE Select	NP_000029.2:p.Lys2357=
NM_001127510.3:c.7071G>A	NP_001120982.1:p.Lys2357=
NM_001127511.3:c.7017G>A	NP_001120983.2:p.Lys2339=
NM_001354895.2:c.7071G>A	NP_001341824.1:p.Lys2357=
NM_001354896.2:c.7125G>A	NP_001341825.1:p.Lys2375=
NM_001354897.2:c.7101G>A	NP_001341826.1:p.Lys2367=
NM_001354898.2:c.6996G>A	NP_001341827.1:p.Lys2332=
NM_001354899.2:c.6987G>A	NP_001341828.1:p.Lys2329=
NM_001354900.2:c.6948G>A	NP_001341829.1:p.Lys2316=
NM_001354901.2:c.6894G>A	NP_001341830.1:p.Lys2298=
NM_001354902.2:c.6798G>A	NP_001341831.1:p.Lys2266=
NM_001354903.2:c.6768G>A	NP_001341832.1:p.Lys2256=
NM_001354904.2:c.6693G>A	NP_001341833.1:p.Lys2231=
NM_001354905.2:c.6591G>A	NP_001341834.1:p.Lys2197=
NM_001354906.2:c.6222G>A	NP_001341835.1:p.Lys2074=