Canonical Allele Identifier: CA446206671

Gene: APC

Linked Data

• ClinVar Variation Id: 1742423
• ClinVar RCV Id: RCV002330538 ; RCV003743958 ; RCV004051975
• dbSNP Id: rs1554086098
• MyVariant Identifiers: chr5:g.112175978C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840281C>T , CM000667.2:g.112840281C>T	GRCh38
NC_000005.9:g.112175978C>T , CM000667.1:g.112175978C>T	GRCh37
NC_000005.8:g.112203877C>T	NCBI36
NG_008481.4:g.152761C>T , LRG_130:g.152761C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4741C>T	ENSP00000473355.2:p.Leu1581=
ENST00000505350.2:c.*4693C>T	ENSP00000481752.1:n.*4693C>T
ENST00000507379.6:c.4633C>T	ENSP00000423224.2:p.Leu1545=
ENST00000509732.6:c.4687C>T	ENSP00000426541.2:p.Leu1563=
ENST00000512211.7:c.4687C>T	ENSP00000423828.3:p.Leu1563=
ENST00000257430.9:c.4687C>T MANE Select	ENSP00000257430.4:p.Leu1563=
ENST00000257430.8:c.4687C>T	ENSP00000257430.4:p.Leu1563=
ENST00000508376.6:c.4687C>T	ENSP00000427089.2:p.Leu1563=
ENST00000508624.5:c.*4009C>T	ENSP00000424265.1:n.*4009C>T
ENST00000520401.1:c.230+11309C>T
NM_000038.5:c.4687C>T	NP_000029.2:p.Leu1563=
NM_001127510.2:c.4687C>T	NP_001120982.1:p.Leu1563=
NM_001127511.2:c.4633C>T	NP_001120983.2:p.Leu1545=
NM_001354895.1:c.4687C>T	NP_001341824.1:p.Leu1563=
NM_001354896.1:c.4741C>T	NP_001341825.1:p.Leu1581=
NM_001354897.1:c.4717C>T	NP_001341826.1:p.Leu1573=
NM_001354898.1:c.4612C>T	NP_001341827.1:p.Leu1538=
NM_001354899.1:c.4603C>T	NP_001341828.1:p.Leu1535=
NM_001354900.1:c.4564C>T	NP_001341829.1:p.Leu1522=
NM_001354901.1:c.4510C>T	NP_001341830.1:p.Leu1504=
NM_001354902.1:c.4414C>T	NP_001341831.1:p.Leu1472=
NM_001354903.1:c.4384C>T	NP_001341832.1:p.Leu1462=
NM_001354904.1:c.4309C>T	NP_001341833.1:p.Leu1437=
NM_001354905.1:c.4207C>T	NP_001341834.1:p.Leu1403=
NM_001354906.1:c.3838C>T	NP_001341835.1:p.Leu1280=
NM_000038.6:c.4687C>T MANE Select	NP_000029.2:p.Leu1563=
NM_001127510.3:c.4687C>T	NP_001120982.1:p.Leu1563=
NM_001127511.3:c.4633C>T	NP_001120983.2:p.Leu1545=
NM_001354895.2:c.4687C>T	NP_001341824.1:p.Leu1563=
NM_001354896.2:c.4741C>T	NP_001341825.1:p.Leu1581=
NM_001354897.2:c.4717C>T	NP_001341826.1:p.Leu1573=
NM_001354898.2:c.4612C>T	NP_001341827.1:p.Leu1538=
NM_001354899.2:c.4603C>T	NP_001341828.1:p.Leu1535=
NM_001354900.2:c.4564C>T	NP_001341829.1:p.Leu1522=
NM_001354901.2:c.4510C>T	NP_001341830.1:p.Leu1504=
NM_001354902.2:c.4414C>T	NP_001341831.1:p.Leu1472=
NM_001354903.2:c.4384C>T	NP_001341832.1:p.Leu1462=
NM_001354904.2:c.4309C>T	NP_001341833.1:p.Leu1437=
NM_001354905.2:c.4207C>T	NP_001341834.1:p.Leu1403=
NM_001354906.2:c.3838C>T	NP_001341835.1:p.Leu1280=