Canonical Allele Identifier: CA16038695

Gene: APC

Linked Data

• ClinVar Variation Id: 565362
• ClinVar RCV Id: RCV004026176 ; RCV003534550
• dbSNP Id: rs1561619804
• MyVariant Identifiers: chr5:g.112179284C>T (hg19) ; chr5:g.112843587C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843587C>T , CM000667.2:g.112843587C>T	GRCh38
NC_000005.9:g.112179284C>T , CM000667.1:g.112179284C>T	GRCh37
NC_000005.8:g.112207183C>T	NCBI36
NG_008481.4:g.156067C>T , LRG_130:g.156067C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8047C>T	ENSP00000473355.2:p.Pro2683Ser
ENST00000505350.2:c.*7999C>T	ENSP00000481752.1:n.*7999C>T
ENST00000507379.6:c.7939C>T	ENSP00000423224.2:p.Pro2647Ser
ENST00000509732.6:c.7993C>T	ENSP00000426541.2:p.Pro2665Ser
ENST00000512211.7:c.7993C>T	ENSP00000423828.3:p.Pro2665Ser
ENST00000257430.9:c.7993C>T MANE Select	ENSP00000257430.4:p.Pro2665Ser
ENST00000257430.8:c.7993C>T	ENSP00000257430.4:p.Pro2665Ser
ENST00000508376.6:c.7993C>T	ENSP00000427089.2:p.Pro2665Ser
ENST00000520401.1:c.231-13062C>T
NM_000038.5:c.7993C>T	NP_000029.2:p.Pro2665Ser
NM_001127510.2:c.7993C>T	NP_001120982.1:p.Pro2665Ser
NM_001127511.2:c.7939C>T	NP_001120983.2:p.Pro2647Ser
NM_001354895.1:c.7993C>T	NP_001341824.1:p.Pro2665Ser
NM_001354896.1:c.8047C>T	NP_001341825.1:p.Pro2683Ser
NM_001354897.1:c.8023C>T	NP_001341826.1:p.Pro2675Ser
NM_001354898.1:c.7918C>T	NP_001341827.1:p.Pro2640Ser
NM_001354899.1:c.7909C>T	NP_001341828.1:p.Pro2637Ser
NM_001354900.1:c.7870C>T	NP_001341829.1:p.Pro2624Ser
NM_001354901.1:c.7816C>T	NP_001341830.1:p.Pro2606Ser
NM_001354902.1:c.7720C>T	NP_001341831.1:p.Pro2574Ser
NM_001354903.1:c.7690C>T	NP_001341832.1:p.Pro2564Ser
NM_001354904.1:c.7615C>T	NP_001341833.1:p.Pro2539Ser
NM_001354905.1:c.7513C>T	NP_001341834.1:p.Pro2505Ser
NM_001354906.1:c.7144C>T	NP_001341835.1:p.Pro2382Ser
NM_000038.6:c.7993C>T MANE Select	NP_000029.2:p.Pro2665Ser
NM_001127510.3:c.7993C>T	NP_001120982.1:p.Pro2665Ser
NM_001127511.3:c.7939C>T	NP_001120983.2:p.Pro2647Ser
NM_001354895.2:c.7993C>T	NP_001341824.1:p.Pro2665Ser
NM_001354896.2:c.8047C>T	NP_001341825.1:p.Pro2683Ser
NM_001354897.2:c.8023C>T	NP_001341826.1:p.Pro2675Ser
NM_001354898.2:c.7918C>T	NP_001341827.1:p.Pro2640Ser
NM_001354899.2:c.7909C>T	NP_001341828.1:p.Pro2637Ser
NM_001354900.2:c.7870C>T	NP_001341829.1:p.Pro2624Ser
NM_001354901.2:c.7816C>T	NP_001341830.1:p.Pro2606Ser
NM_001354902.2:c.7720C>T	NP_001341831.1:p.Pro2574Ser
NM_001354903.2:c.7690C>T	NP_001341832.1:p.Pro2564Ser
NM_001354904.2:c.7615C>T	NP_001341833.1:p.Pro2539Ser
NM_001354905.2:c.7513C>T	NP_001341834.1:p.Pro2505Ser
NM_001354906.2:c.7144C>T	NP_001341835.1:p.Pro2382Ser