Canonical Allele Identifier: CA046822

Gene: APC

Linked Data

• ClinVar Variation Id: 3231145
• ClinVar RCV Id: RCV004525216
• dbSNP Id: rs756740976
• ExAC: 5:112178376 G / T
• gnomAD v2: 5-112178376-G-T
• gnomAD v4: 5-112842679-G-T
• MyVariant Identifiers: chr5:g.112178376G>T (hg19) ; chr5:g.112842679G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842679G>T , CM000667.2:g.112842679G>T	GRCh38
NC_000005.9:g.112178376G>T , CM000667.1:g.112178376G>T	GRCh37
NC_000005.8:g.112206275G>T	NCBI36
NG_008481.4:g.155159G>T , LRG_130:g.155159G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7139G>T	ENSP00000473355.2:p.Gly2380Val
ENST00000505350.2:c.*7091G>T	ENSP00000481752.1:n.*7091G>T
ENST00000507379.6:c.7031G>T	ENSP00000423224.2:p.Gly2344Val
ENST00000509732.6:c.7085G>T	ENSP00000426541.2:p.Gly2362Val
ENST00000512211.7:c.7085G>T	ENSP00000423828.3:p.Gly2362Val
ENST00000257430.9:c.7085G>T MANE Select	ENSP00000257430.4:p.Gly2362Val
ENST00000257430.8:c.7085G>T	ENSP00000257430.4:p.Gly2362Val
ENST00000508376.6:c.7085G>T	ENSP00000427089.2:p.Gly2362Val
ENST00000508624.5:c.*6407G>T	ENSP00000424265.1:n.*6407G>T
ENST00000520401.1:c.230+13707G>T
NM_000038.5:c.7085G>T	NP_000029.2:p.Gly2362Val
NM_001127510.2:c.7085G>T	NP_001120982.1:p.Gly2362Val
NM_001127511.2:c.7031G>T	NP_001120983.2:p.Gly2344Val
NM_001354895.1:c.7085G>T	NP_001341824.1:p.Gly2362Val
NM_001354896.1:c.7139G>T	NP_001341825.1:p.Gly2380Val
NM_001354897.1:c.7115G>T	NP_001341826.1:p.Gly2372Val
NM_001354898.1:c.7010G>T	NP_001341827.1:p.Gly2337Val
NM_001354899.1:c.7001G>T	NP_001341828.1:p.Gly2334Val
NM_001354900.1:c.6962G>T	NP_001341829.1:p.Gly2321Val
NM_001354901.1:c.6908G>T	NP_001341830.1:p.Gly2303Val
NM_001354902.1:c.6812G>T	NP_001341831.1:p.Gly2271Val
NM_001354903.1:c.6782G>T	NP_001341832.1:p.Gly2261Val
NM_001354904.1:c.6707G>T	NP_001341833.1:p.Gly2236Val
NM_001354905.1:c.6605G>T	NP_001341834.1:p.Gly2202Val
NM_001354906.1:c.6236G>T	NP_001341835.1:p.Gly2079Val
NM_000038.6:c.7085G>T MANE Select	NP_000029.2:p.Gly2362Val
NM_001127510.3:c.7085G>T	NP_001120982.1:p.Gly2362Val
NM_001127511.3:c.7031G>T	NP_001120983.2:p.Gly2344Val
NM_001354895.2:c.7085G>T	NP_001341824.1:p.Gly2362Val
NM_001354896.2:c.7139G>T	NP_001341825.1:p.Gly2380Val
NM_001354897.2:c.7115G>T	NP_001341826.1:p.Gly2372Val
NM_001354898.2:c.7010G>T	NP_001341827.1:p.Gly2337Val
NM_001354899.2:c.7001G>T	NP_001341828.1:p.Gly2334Val
NM_001354900.2:c.6962G>T	NP_001341829.1:p.Gly2321Val
NM_001354901.2:c.6908G>T	NP_001341830.1:p.Gly2303Val
NM_001354902.2:c.6812G>T	NP_001341831.1:p.Gly2271Val
NM_001354903.2:c.6782G>T	NP_001341832.1:p.Gly2261Val
NM_001354904.2:c.6707G>T	NP_001341833.1:p.Gly2236Val
NM_001354905.2:c.6605G>T	NP_001341834.1:p.Gly2202Val
NM_001354906.2:c.6236G>T	NP_001341835.1:p.Gly2079Val