Canonical Allele Identifier: CA039634

Gene: APC

Linked Data

• ClinVar Variation Id: 482393
• ClinVar RCV Id: RCV000573193 ; RCV000806673 ; RCV001194205
• dbSNP Id: rs750107668
• ExAC: 5:112176005 A / T
• gnomAD v2: 5-112176005-A-T
• gnomAD v3: 5-112840308-A-T
• gnomAD v4: 5-112840308-A-T
• MyVariant Identifiers: chr5:g.112176005A>T (hg19) ; chr5:g.112840308A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840308A>T , CM000667.2:g.112840308A>T	GRCh38
NC_000005.9:g.112176005A>T , CM000667.1:g.112176005A>T	GRCh37
NC_000005.8:g.112203904A>T	NCBI36
NG_008481.4:g.152788A>T , LRG_130:g.152788A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4768A>T	ENSP00000473355.2:p.Ile1590Phe
ENST00000505350.2:c.*4720A>T	ENSP00000481752.1:n.*4720A>T
ENST00000507379.6:c.4660A>T	ENSP00000423224.2:p.Ile1554Phe
ENST00000509732.6:c.4714A>T	ENSP00000426541.2:p.Ile1572Phe
ENST00000512211.7:c.4714A>T	ENSP00000423828.3:p.Ile1572Phe
ENST00000257430.9:c.4714A>T MANE Select	ENSP00000257430.4:p.Ile1572Phe
ENST00000257430.8:c.4714A>T	ENSP00000257430.4:p.Ile1572Phe
ENST00000508376.6:c.4714A>T	ENSP00000427089.2:p.Ile1572Phe
ENST00000508624.5:c.*4036A>T	ENSP00000424265.1:n.*4036A>T
ENST00000520401.1:c.230+11336A>T
NM_000038.5:c.4714A>T	NP_000029.2:p.Ile1572Phe
NM_001127510.2:c.4714A>T	NP_001120982.1:p.Ile1572Phe
NM_001127511.2:c.4660A>T	NP_001120983.2:p.Ile1554Phe
NM_001354895.1:c.4714A>T	NP_001341824.1:p.Ile1572Phe
NM_001354896.1:c.4768A>T	NP_001341825.1:p.Ile1590Phe
NM_001354897.1:c.4744A>T	NP_001341826.1:p.Ile1582Phe
NM_001354898.1:c.4639A>T	NP_001341827.1:p.Ile1547Phe
NM_001354899.1:c.4630A>T	NP_001341828.1:p.Ile1544Phe
NM_001354900.1:c.4591A>T	NP_001341829.1:p.Ile1531Phe
NM_001354901.1:c.4537A>T	NP_001341830.1:p.Ile1513Phe
NM_001354902.1:c.4441A>T	NP_001341831.1:p.Ile1481Phe
NM_001354903.1:c.4411A>T	NP_001341832.1:p.Ile1471Phe
NM_001354904.1:c.4336A>T	NP_001341833.1:p.Ile1446Phe
NM_001354905.1:c.4234A>T	NP_001341834.1:p.Ile1412Phe
NM_001354906.1:c.3865A>T	NP_001341835.1:p.Ile1289Phe
NM_000038.6:c.4714A>T MANE Select	NP_000029.2:p.Ile1572Phe
NM_001127510.3:c.4714A>T	NP_001120982.1:p.Ile1572Phe
NM_001127511.3:c.4660A>T	NP_001120983.2:p.Ile1554Phe
NM_001354895.2:c.4714A>T	NP_001341824.1:p.Ile1572Phe
NM_001354896.2:c.4768A>T	NP_001341825.1:p.Ile1590Phe
NM_001354897.2:c.4744A>T	NP_001341826.1:p.Ile1582Phe
NM_001354898.2:c.4639A>T	NP_001341827.1:p.Ile1547Phe
NM_001354899.2:c.4630A>T	NP_001341828.1:p.Ile1544Phe
NM_001354900.2:c.4591A>T	NP_001341829.1:p.Ile1531Phe
NM_001354901.2:c.4537A>T	NP_001341830.1:p.Ile1513Phe
NM_001354902.2:c.4441A>T	NP_001341831.1:p.Ile1481Phe
NM_001354903.2:c.4411A>T	NP_001341832.1:p.Ile1471Phe
NM_001354904.2:c.4336A>T	NP_001341833.1:p.Ile1446Phe
NM_001354905.2:c.4234A>T	NP_001341834.1:p.Ile1412Phe
NM_001354906.2:c.3865A>T	NP_001341835.1:p.Ile1289Phe