Canonical Allele Identifier: CA16031873

Gene: APC

Linked Data

• ClinVar Variation Id: 482521
• ClinVar RCV Id: RCV003652027
• dbSNP Id: rs1017844073
• gnomAD v4: 5-112840404-C-T
• COSMIC: COSM6475520
• MyVariant Identifiers: chr5:g.112176101C>T (hg19) ; chr5:g.112840404C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840404C>T , CM000667.2:g.112840404C>T	GRCh38
NC_000005.9:g.112176101C>T , CM000667.1:g.112176101C>T	GRCh37
NC_000005.8:g.112204000C>T	NCBI36
NG_008481.4:g.152884C>T , LRG_130:g.152884C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.4864C>T	ENSP00000473355.2:p.Pro1622Ser
ENST00000505350.2:c.*4816C>T	ENSP00000481752.1:n.*4816C>T
ENST00000507379.6:c.4756C>T	ENSP00000423224.2:p.Pro1586Ser
ENST00000509732.6:c.4810C>T	ENSP00000426541.2:p.Pro1604Ser
ENST00000512211.7:c.4810C>T	ENSP00000423828.3:p.Pro1604Ser
ENST00000257430.9:c.4810C>T MANE Select	ENSP00000257430.4:p.Pro1604Ser
ENST00000257430.8:c.4810C>T	ENSP00000257430.4:p.Pro1604Ser
ENST00000508376.6:c.4810C>T	ENSP00000427089.2:p.Pro1604Ser
ENST00000508624.5:c.*4132C>T	ENSP00000424265.1:n.*4132C>T
ENST00000520401.1:c.230+11432C>T
NM_000038.5:c.4810C>T	NP_000029.2:p.Pro1604Ser
NM_001127510.2:c.4810C>T	NP_001120982.1:p.Pro1604Ser
NM_001127511.2:c.4756C>T	NP_001120983.2:p.Pro1586Ser
NM_001354895.1:c.4810C>T	NP_001341824.1:p.Pro1604Ser
NM_001354896.1:c.4864C>T	NP_001341825.1:p.Pro1622Ser
NM_001354897.1:c.4840C>T	NP_001341826.1:p.Pro1614Ser
NM_001354898.1:c.4735C>T	NP_001341827.1:p.Pro1579Ser
NM_001354899.1:c.4726C>T	NP_001341828.1:p.Pro1576Ser
NM_001354900.1:c.4687C>T	NP_001341829.1:p.Pro1563Ser
NM_001354901.1:c.4633C>T	NP_001341830.1:p.Pro1545Ser
NM_001354902.1:c.4537C>T	NP_001341831.1:p.Pro1513Ser
NM_001354903.1:c.4507C>T	NP_001341832.1:p.Pro1503Ser
NM_001354904.1:c.4432C>T	NP_001341833.1:p.Pro1478Ser
NM_001354905.1:c.4330C>T	NP_001341834.1:p.Pro1444Ser
NM_001354906.1:c.3961C>T	NP_001341835.1:p.Pro1321Ser
NM_000038.6:c.4810C>T MANE Select	NP_000029.2:p.Pro1604Ser
NM_001127510.3:c.4810C>T	NP_001120982.1:p.Pro1604Ser
NM_001127511.3:c.4756C>T	NP_001120983.2:p.Pro1586Ser
NM_001354895.2:c.4810C>T	NP_001341824.1:p.Pro1604Ser
NM_001354896.2:c.4864C>T	NP_001341825.1:p.Pro1622Ser
NM_001354897.2:c.4840C>T	NP_001341826.1:p.Pro1614Ser
NM_001354898.2:c.4735C>T	NP_001341827.1:p.Pro1579Ser
NM_001354899.2:c.4726C>T	NP_001341828.1:p.Pro1576Ser
NM_001354900.2:c.4687C>T	NP_001341829.1:p.Pro1563Ser
NM_001354901.2:c.4633C>T	NP_001341830.1:p.Pro1545Ser
NM_001354902.2:c.4537C>T	NP_001341831.1:p.Pro1513Ser
NM_001354903.2:c.4507C>T	NP_001341832.1:p.Pro1503Ser
NM_001354904.2:c.4432C>T	NP_001341833.1:p.Pro1478Ser
NM_001354905.2:c.4330C>T	NP_001341834.1:p.Pro1444Ser
NM_001354906.2:c.3961C>T	NP_001341835.1:p.Pro1321Ser