Canonical Allele Identifier: CA16032102

Gene: APC

Linked Data

• ClinVar Variation Id: 2624849
• ClinVar RCV Id: RCV003387070
• dbSNP Id: rs2149927256
• gnomAD v4: 5-112840509-C-T
• MyVariant Identifiers: chr5:g.112176206C>T (hg19) ; chr5:g.112840509C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840509C>T , CM000667.2:g.112840509C>T	GRCh38
NC_000005.9:g.112176206C>T , CM000667.1:g.112176206C>T	GRCh37
NC_000005.8:g.112204105C>T	NCBI36
NG_008481.4:g.152989C>T , LRG_130:g.152989C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.4969C>T	ENSP00000473355.2:p.Pro1657Ser
ENST00000505350.2:c.*4921C>T	ENSP00000481752.1:n.*4921C>T
ENST00000507379.6:c.4861C>T	ENSP00000423224.2:p.Pro1621Ser
ENST00000509732.6:c.4915C>T	ENSP00000426541.2:p.Pro1639Ser
ENST00000512211.7:c.4915C>T	ENSP00000423828.3:p.Pro1639Ser
ENST00000257430.9:c.4915C>T MANE Select	ENSP00000257430.4:p.Pro1639Ser
ENST00000257430.8:c.4915C>T	ENSP00000257430.4:p.Pro1639Ser
ENST00000508376.6:c.4915C>T	ENSP00000427089.2:p.Pro1639Ser
ENST00000508624.5:c.*4237C>T	ENSP00000424265.1:n.*4237C>T
ENST00000520401.1:c.230+11537C>T
NM_000038.5:c.4915C>T	NP_000029.2:p.Pro1639Ser
NM_001127510.2:c.4915C>T	NP_001120982.1:p.Pro1639Ser
NM_001127511.2:c.4861C>T	NP_001120983.2:p.Pro1621Ser
NM_001354895.1:c.4915C>T	NP_001341824.1:p.Pro1639Ser
NM_001354896.1:c.4969C>T	NP_001341825.1:p.Pro1657Ser
NM_001354897.1:c.4945C>T	NP_001341826.1:p.Pro1649Ser
NM_001354898.1:c.4840C>T	NP_001341827.1:p.Pro1614Ser
NM_001354899.1:c.4831C>T	NP_001341828.1:p.Pro1611Ser
NM_001354900.1:c.4792C>T	NP_001341829.1:p.Pro1598Ser
NM_001354901.1:c.4738C>T	NP_001341830.1:p.Pro1580Ser
NM_001354902.1:c.4642C>T	NP_001341831.1:p.Pro1548Ser
NM_001354903.1:c.4612C>T	NP_001341832.1:p.Pro1538Ser
NM_001354904.1:c.4537C>T	NP_001341833.1:p.Pro1513Ser
NM_001354905.1:c.4435C>T	NP_001341834.1:p.Pro1479Ser
NM_001354906.1:c.4066C>T	NP_001341835.1:p.Pro1356Ser
NM_000038.6:c.4915C>T MANE Select	NP_000029.2:p.Pro1639Ser
NM_001127510.3:c.4915C>T	NP_001120982.1:p.Pro1639Ser
NM_001127511.3:c.4861C>T	NP_001120983.2:p.Pro1621Ser
NM_001354895.2:c.4915C>T	NP_001341824.1:p.Pro1639Ser
NM_001354896.2:c.4969C>T	NP_001341825.1:p.Pro1657Ser
NM_001354897.2:c.4945C>T	NP_001341826.1:p.Pro1649Ser
NM_001354898.2:c.4840C>T	NP_001341827.1:p.Pro1614Ser
NM_001354899.2:c.4831C>T	NP_001341828.1:p.Pro1611Ser
NM_001354900.2:c.4792C>T	NP_001341829.1:p.Pro1598Ser
NM_001354901.2:c.4738C>T	NP_001341830.1:p.Pro1580Ser
NM_001354902.2:c.4642C>T	NP_001341831.1:p.Pro1548Ser
NM_001354903.2:c.4612C>T	NP_001341832.1:p.Pro1538Ser
NM_001354904.2:c.4537C>T	NP_001341833.1:p.Pro1513Ser
NM_001354905.2:c.4435C>T	NP_001341834.1:p.Pro1479Ser
NM_001354906.2:c.4066C>T	NP_001341835.1:p.Pro1356Ser