Canonical Allele Identifier: CA16036400

Gene: APC

Linked Data

• ClinVar Variation Id: 998123
• ClinVar RCV Id: RCV001293810
• dbSNP Id: rs544549596
• MyVariant Identifiers: chr5:g.112178198G>T (hg19) ; chr5:g.112842501G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842501G>T , CM000667.2:g.112842501G>T	GRCh38
NC_000005.9:g.112178198G>T , CM000667.1:g.112178198G>T	GRCh37
NC_000005.8:g.112206097G>T	NCBI36
NG_008481.4:g.154981G>T , LRG_130:g.154981G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.6961G>T	ENSP00000473355.2:p.Gly2321Ter
ENST00000505350.2:c.*6913G>T	ENSP00000481752.1:n.*6913G>T
ENST00000507379.6:c.6853G>T	ENSP00000423224.2:p.Gly2285Ter
ENST00000509732.6:c.6907G>T	ENSP00000426541.2:p.Gly2303Ter
ENST00000512211.7:c.6907G>T	ENSP00000423828.3:p.Gly2303Ter
ENST00000257430.9:c.6907G>T MANE Select	ENSP00000257430.4:p.Gly2303Ter
ENST00000257430.8:c.6907G>T	ENSP00000257430.4:p.Gly2303Ter
ENST00000508376.6:c.6907G>T	ENSP00000427089.2:p.Gly2303Ter
ENST00000508624.5:c.*6229G>T	ENSP00000424265.1:n.*6229G>T
ENST00000520401.1:c.230+13529G>T
NM_000038.5:c.6907G>T	NP_000029.2:p.Gly2303Ter
NM_001127510.2:c.6907G>T	NP_001120982.1:p.Gly2303Ter
NM_001127511.2:c.6853G>T	NP_001120983.2:p.Gly2285Ter
NM_001354895.1:c.6907G>T	NP_001341824.1:p.Gly2303Ter
NM_001354896.1:c.6961G>T	NP_001341825.1:p.Gly2321Ter
NM_001354897.1:c.6937G>T	NP_001341826.1:p.Gly2313Ter
NM_001354898.1:c.6832G>T	NP_001341827.1:p.Gly2278Ter
NM_001354899.1:c.6823G>T	NP_001341828.1:p.Gly2275Ter
NM_001354900.1:c.6784G>T	NP_001341829.1:p.Gly2262Ter
NM_001354901.1:c.6730G>T	NP_001341830.1:p.Gly2244Ter
NM_001354902.1:c.6634G>T	NP_001341831.1:p.Gly2212Ter
NM_001354903.1:c.6604G>T	NP_001341832.1:p.Gly2202Ter
NM_001354904.1:c.6529G>T	NP_001341833.1:p.Gly2177Ter
NM_001354905.1:c.6427G>T	NP_001341834.1:p.Gly2143Ter
NM_001354906.1:c.6058G>T	NP_001341835.1:p.Gly2020Ter
NM_000038.6:c.6907G>T MANE Select	NP_000029.2:p.Gly2303Ter
NM_001127510.3:c.6907G>T	NP_001120982.1:p.Gly2303Ter
NM_001127511.3:c.6853G>T	NP_001120983.2:p.Gly2285Ter
NM_001354895.2:c.6907G>T	NP_001341824.1:p.Gly2303Ter
NM_001354896.2:c.6961G>T	NP_001341825.1:p.Gly2321Ter
NM_001354897.2:c.6937G>T	NP_001341826.1:p.Gly2313Ter
NM_001354898.2:c.6832G>T	NP_001341827.1:p.Gly2278Ter
NM_001354899.2:c.6823G>T	NP_001341828.1:p.Gly2275Ter
NM_001354900.2:c.6784G>T	NP_001341829.1:p.Gly2262Ter
NM_001354901.2:c.6730G>T	NP_001341830.1:p.Gly2244Ter
NM_001354902.2:c.6634G>T	NP_001341831.1:p.Gly2212Ter
NM_001354903.2:c.6604G>T	NP_001341832.1:p.Gly2202Ter
NM_001354904.2:c.6529G>T	NP_001341833.1:p.Gly2177Ter
NM_001354905.2:c.6427G>T	NP_001341834.1:p.Gly2143Ter
NM_001354906.2:c.6058G>T	NP_001341835.1:p.Gly2020Ter