Canonical Allele Identifier: CA16036669

Gene: APC

Linked Data

• gnomAD v4: 5-112842630-C-G
• MyVariant Identifiers: chr5:g.112178327C>G (hg19) ; chr5:g.112842630C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842630C>G , CM000667.2:g.112842630C>G	GRCh38
NC_000005.9:g.112178327C>G , CM000667.1:g.112178327C>G	GRCh37
NC_000005.8:g.112206226C>G	NCBI36
NG_008481.4:g.155110C>G , LRG_130:g.155110C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7090C>G	ENSP00000473355.2:p.Pro2364Ala
ENST00000505350.2:c.*7042C>G	ENSP00000481752.1:n.*7042C>G
ENST00000507379.6:c.6982C>G	ENSP00000423224.2:p.Pro2328Ala
ENST00000509732.6:c.7036C>G	ENSP00000426541.2:p.Pro2346Ala
ENST00000512211.7:c.7036C>G	ENSP00000423828.3:p.Pro2346Ala
ENST00000257430.9:c.7036C>G MANE Select	ENSP00000257430.4:p.Pro2346Ala
ENST00000257430.8:c.7036C>G	ENSP00000257430.4:p.Pro2346Ala
ENST00000508376.6:c.7036C>G	ENSP00000427089.2:p.Pro2346Ala
ENST00000508624.5:c.*6358C>G	ENSP00000424265.1:n.*6358C>G
ENST00000520401.1:c.230+13658C>G
NM_000038.5:c.7036C>G	NP_000029.2:p.Pro2346Ala
NM_001127510.2:c.7036C>G	NP_001120982.1:p.Pro2346Ala
NM_001127511.2:c.6982C>G	NP_001120983.2:p.Pro2328Ala
NM_001354895.1:c.7036C>G	NP_001341824.1:p.Pro2346Ala
NM_001354896.1:c.7090C>G	NP_001341825.1:p.Pro2364Ala
NM_001354897.1:c.7066C>G	NP_001341826.1:p.Pro2356Ala
NM_001354898.1:c.6961C>G	NP_001341827.1:p.Pro2321Ala
NM_001354899.1:c.6952C>G	NP_001341828.1:p.Pro2318Ala
NM_001354900.1:c.6913C>G	NP_001341829.1:p.Pro2305Ala
NM_001354901.1:c.6859C>G	NP_001341830.1:p.Pro2287Ala
NM_001354902.1:c.6763C>G	NP_001341831.1:p.Pro2255Ala
NM_001354903.1:c.6733C>G	NP_001341832.1:p.Pro2245Ala
NM_001354904.1:c.6658C>G	NP_001341833.1:p.Pro2220Ala
NM_001354905.1:c.6556C>G	NP_001341834.1:p.Pro2186Ala
NM_001354906.1:c.6187C>G	NP_001341835.1:p.Pro2063Ala
NM_000038.6:c.7036C>G MANE Select	NP_000029.2:p.Pro2346Ala
NM_001127510.3:c.7036C>G	NP_001120982.1:p.Pro2346Ala
NM_001127511.3:c.6982C>G	NP_001120983.2:p.Pro2328Ala
NM_001354895.2:c.7036C>G	NP_001341824.1:p.Pro2346Ala
NM_001354896.2:c.7090C>G	NP_001341825.1:p.Pro2364Ala
NM_001354897.2:c.7066C>G	NP_001341826.1:p.Pro2356Ala
NM_001354898.2:c.6961C>G	NP_001341827.1:p.Pro2321Ala
NM_001354899.2:c.6952C>G	NP_001341828.1:p.Pro2318Ala
NM_001354900.2:c.6913C>G	NP_001341829.1:p.Pro2305Ala
NM_001354901.2:c.6859C>G	NP_001341830.1:p.Pro2287Ala
NM_001354902.2:c.6763C>G	NP_001341831.1:p.Pro2255Ala
NM_001354903.2:c.6733C>G	NP_001341832.1:p.Pro2245Ala
NM_001354904.2:c.6658C>G	NP_001341833.1:p.Pro2220Ala
NM_001354905.2:c.6556C>G	NP_001341834.1:p.Pro2186Ala
NM_001354906.2:c.6187C>G	NP_001341835.1:p.Pro2063Ala