Canonical Allele Identifier: CA16031861

Gene: APC

Linked Data

• ClinVar Variation Id: 629234
• ClinVar RCV Id: RCV000773933
• dbSNP Id: rs1408572186
• gnomAD v4: 5-112840398-C-T
• MyVariant Identifiers: chr5:g.112176095C>T (hg19) ; chr5:g.112840398C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840398C>T , CM000667.2:g.112840398C>T	GRCh38
NC_000005.9:g.112176095C>T , CM000667.1:g.112176095C>T	GRCh37
NC_000005.8:g.112203994C>T	NCBI36
NG_008481.4:g.152878C>T , LRG_130:g.152878C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.4858C>T	ENSP00000473355.2:p.Pro1620Ser
ENST00000505350.2:c.*4810C>T	ENSP00000481752.1:n.*4810C>T
ENST00000507379.6:c.4750C>T	ENSP00000423224.2:p.Pro1584Ser
ENST00000509732.6:c.4804C>T	ENSP00000426541.2:p.Pro1602Ser
ENST00000512211.7:c.4804C>T	ENSP00000423828.3:p.Pro1602Ser
ENST00000257430.9:c.4804C>T MANE Select	ENSP00000257430.4:p.Pro1602Ser
ENST00000257430.8:c.4804C>T	ENSP00000257430.4:p.Pro1602Ser
ENST00000508376.6:c.4804C>T	ENSP00000427089.2:p.Pro1602Ser
ENST00000508624.5:c.*4126C>T	ENSP00000424265.1:n.*4126C>T
ENST00000520401.1:c.230+11426C>T
NM_000038.5:c.4804C>T	NP_000029.2:p.Pro1602Ser
NM_001127510.2:c.4804C>T	NP_001120982.1:p.Pro1602Ser
NM_001127511.2:c.4750C>T	NP_001120983.2:p.Pro1584Ser
NM_001354895.1:c.4804C>T	NP_001341824.1:p.Pro1602Ser
NM_001354896.1:c.4858C>T	NP_001341825.1:p.Pro1620Ser
NM_001354897.1:c.4834C>T	NP_001341826.1:p.Pro1612Ser
NM_001354898.1:c.4729C>T	NP_001341827.1:p.Pro1577Ser
NM_001354899.1:c.4720C>T	NP_001341828.1:p.Pro1574Ser
NM_001354900.1:c.4681C>T	NP_001341829.1:p.Pro1561Ser
NM_001354901.1:c.4627C>T	NP_001341830.1:p.Pro1543Ser
NM_001354902.1:c.4531C>T	NP_001341831.1:p.Pro1511Ser
NM_001354903.1:c.4501C>T	NP_001341832.1:p.Pro1501Ser
NM_001354904.1:c.4426C>T	NP_001341833.1:p.Pro1476Ser
NM_001354905.1:c.4324C>T	NP_001341834.1:p.Pro1442Ser
NM_001354906.1:c.3955C>T	NP_001341835.1:p.Pro1319Ser
NM_000038.6:c.4804C>T MANE Select	NP_000029.2:p.Pro1602Ser
NM_001127510.3:c.4804C>T	NP_001120982.1:p.Pro1602Ser
NM_001127511.3:c.4750C>T	NP_001120983.2:p.Pro1584Ser
NM_001354895.2:c.4804C>T	NP_001341824.1:p.Pro1602Ser
NM_001354896.2:c.4858C>T	NP_001341825.1:p.Pro1620Ser
NM_001354897.2:c.4834C>T	NP_001341826.1:p.Pro1612Ser
NM_001354898.2:c.4729C>T	NP_001341827.1:p.Pro1577Ser
NM_001354899.2:c.4720C>T	NP_001341828.1:p.Pro1574Ser
NM_001354900.2:c.4681C>T	NP_001341829.1:p.Pro1561Ser
NM_001354901.2:c.4627C>T	NP_001341830.1:p.Pro1543Ser
NM_001354902.2:c.4531C>T	NP_001341831.1:p.Pro1511Ser
NM_001354903.2:c.4501C>T	NP_001341832.1:p.Pro1501Ser
NM_001354904.2:c.4426C>T	NP_001341833.1:p.Pro1476Ser
NM_001354905.2:c.4324C>T	NP_001341834.1:p.Pro1442Ser
NM_001354906.2:c.3955C>T	NP_001341835.1:p.Pro1319Ser