Canonical Allele Identifier: CA007124

Gene: APC

Linked Data

• ClinVar Variation Id: 181792
• ClinVar RCV Id: RCV000159538 ; RCV003380497 ; RCV002229398
• dbSNP Id: rs730881240
• COSMIC: COSM4662377
• MyVariant Identifiers: chr5:g.112173278C>T (hg19) ; chr5:g.112837581C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837581C>T , CM000667.2:g.112837581C>T	GRCh38
NC_000005.9:g.112173278C>T , CM000667.1:g.112173278C>T	GRCh37
NC_000005.8:g.112201177C>T	NCBI36
NG_008481.4:g.150061C>T , LRG_130:g.150061C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1652C>T	ENSP00000484935.2:n.1652C>T
ENST00000504915.3:c.2041C>T	ENSP00000473355.2:p.Gln681Ter
ENST00000505350.2:c.*1993C>T	ENSP00000481752.1:n.*1993C>T
ENST00000507379.6:c.1933C>T	ENSP00000423224.2:p.Gln645Ter
ENST00000509732.6:c.1987C>T	ENSP00000426541.2:p.Gln663Ter
ENST00000512211.7:c.1987C>T	ENSP00000423828.3:p.Gln663Ter
ENST00000257430.9:c.1987C>T MANE Select	ENSP00000257430.4:p.Gln663Ter
ENST00000257430.8:c.1987C>T	ENSP00000257430.4:p.Gln663Ter
ENST00000502371.2:c.340C>T
ENST00000504915.2:c.676C>T	ENSP00000473355.1:p.Gln226Ter
ENST00000507379.5:c.1933C>T	ENSP00000423224.1:p.Gln645Ter
ENST00000508376.6:c.1987C>T	ENSP00000427089.2:p.Gln663Ter
ENST00000508624.5:c.*1309C>T	ENSP00000424265.1:n.*1309C>T
ENST00000512211.6:c.1987C>T	ENSP00000423828.2:p.Gln663Ter
ENST00000520401.1:c.230+8609C>T
NM_000038.5:c.1987C>T	NP_000029.2:p.Gln663Ter
NM_001127510.2:c.1987C>T	NP_001120982.1:p.Gln663Ter
NM_001127511.2:c.1933C>T	NP_001120983.2:p.Gln645Ter
NM_001354895.1:c.1987C>T	NP_001341824.1:p.Gln663Ter
NM_001354896.1:c.2041C>T	NP_001341825.1:p.Gln681Ter
NM_001354897.1:c.2017C>T	NP_001341826.1:p.Gln673Ter
NM_001354898.1:c.1912C>T	NP_001341827.1:p.Gln638Ter
NM_001354899.1:c.1903C>T	NP_001341828.1:p.Gln635Ter
NM_001354900.1:c.1864C>T	NP_001341829.1:p.Gln622Ter
NM_001354901.1:c.1810C>T	NP_001341830.1:p.Gln604Ter
NM_001354902.1:c.1714C>T	NP_001341831.1:p.Gln572Ter
NM_001354903.1:c.1684C>T	NP_001341832.1:p.Gln562Ter
NM_001354904.1:c.1609C>T	NP_001341833.1:p.Gln537Ter
NM_001354905.1:c.1507C>T	NP_001341834.1:p.Gln503Ter
NM_001354906.1:c.1138C>T	NP_001341835.1:p.Gln380Ter
NM_000038.6:c.1987C>T MANE Select	NP_000029.2:p.Gln663Ter
NM_001127510.3:c.1987C>T	NP_001120982.1:p.Gln663Ter
NM_001127511.3:c.1933C>T	NP_001120983.2:p.Gln645Ter
NM_001354895.2:c.1987C>T	NP_001341824.1:p.Gln663Ter
NM_001354896.2:c.2041C>T	NP_001341825.1:p.Gln681Ter
NM_001354897.2:c.2017C>T	NP_001341826.1:p.Gln673Ter
NM_001354898.2:c.1912C>T	NP_001341827.1:p.Gln638Ter
NM_001354899.2:c.1903C>T	NP_001341828.1:p.Gln635Ter
NM_001354900.2:c.1864C>T	NP_001341829.1:p.Gln622Ter
NM_001354901.2:c.1810C>T	NP_001341830.1:p.Gln604Ter
NM_001354902.2:c.1714C>T	NP_001341831.1:p.Gln572Ter
NM_001354903.2:c.1684C>T	NP_001341832.1:p.Gln562Ter
NM_001354904.2:c.1609C>T	NP_001341833.1:p.Gln537Ter
NM_001354905.2:c.1507C>T	NP_001341834.1:p.Gln503Ter
NM_001354906.2:c.1138C>T	NP_001341835.1:p.Gln380Ter