Canonical Allele Identifier: CA16031677

Gene: APC

Linked Data

• ClinVar Variation Id: 1742624
• ClinVar RCV Id: RCV002335374
• MyVariant Identifiers: chr5:g.112176009A>C (hg19) ; chr5:g.112840312A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840312A>C , CM000667.2:g.112840312A>C	GRCh38
NC_000005.9:g.112176009A>C , CM000667.1:g.112176009A>C	GRCh37
NC_000005.8:g.112203908A>C	NCBI36
NG_008481.4:g.152792A>C , LRG_130:g.152792A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4772A>C	ENSP00000473355.2:p.Glu1591Ala
ENST00000505350.2:c.*4724A>C	ENSP00000481752.1:n.*4724A>C
ENST00000507379.6:c.4664A>C	ENSP00000423224.2:p.Glu1555Ala
ENST00000509732.6:c.4718A>C	ENSP00000426541.2:p.Glu1573Ala
ENST00000512211.7:c.4718A>C	ENSP00000423828.3:p.Glu1573Ala
ENST00000257430.9:c.4718A>C MANE Select	ENSP00000257430.4:p.Glu1573Ala
ENST00000257430.8:c.4718A>C	ENSP00000257430.4:p.Glu1573Ala
ENST00000508376.6:c.4718A>C	ENSP00000427089.2:p.Glu1573Ala
ENST00000508624.5:c.*4040A>C	ENSP00000424265.1:n.*4040A>C
ENST00000520401.1:c.230+11340A>C
NM_000038.5:c.4718A>C	NP_000029.2:p.Glu1573Ala
NM_001127510.2:c.4718A>C	NP_001120982.1:p.Glu1573Ala
NM_001127511.2:c.4664A>C	NP_001120983.2:p.Glu1555Ala
NM_001354895.1:c.4718A>C	NP_001341824.1:p.Glu1573Ala
NM_001354896.1:c.4772A>C	NP_001341825.1:p.Glu1591Ala
NM_001354897.1:c.4748A>C	NP_001341826.1:p.Glu1583Ala
NM_001354898.1:c.4643A>C	NP_001341827.1:p.Glu1548Ala
NM_001354899.1:c.4634A>C	NP_001341828.1:p.Glu1545Ala
NM_001354900.1:c.4595A>C	NP_001341829.1:p.Glu1532Ala
NM_001354901.1:c.4541A>C	NP_001341830.1:p.Glu1514Ala
NM_001354902.1:c.4445A>C	NP_001341831.1:p.Glu1482Ala
NM_001354903.1:c.4415A>C	NP_001341832.1:p.Glu1472Ala
NM_001354904.1:c.4340A>C	NP_001341833.1:p.Glu1447Ala
NM_001354905.1:c.4238A>C	NP_001341834.1:p.Glu1413Ala
NM_001354906.1:c.3869A>C	NP_001341835.1:p.Glu1290Ala
NM_000038.6:c.4718A>C MANE Select	NP_000029.2:p.Glu1573Ala
NM_001127510.3:c.4718A>C	NP_001120982.1:p.Glu1573Ala
NM_001127511.3:c.4664A>C	NP_001120983.2:p.Glu1555Ala
NM_001354895.2:c.4718A>C	NP_001341824.1:p.Glu1573Ala
NM_001354896.2:c.4772A>C	NP_001341825.1:p.Glu1591Ala
NM_001354897.2:c.4748A>C	NP_001341826.1:p.Glu1583Ala
NM_001354898.2:c.4643A>C	NP_001341827.1:p.Glu1548Ala
NM_001354899.2:c.4634A>C	NP_001341828.1:p.Glu1545Ala
NM_001354900.2:c.4595A>C	NP_001341829.1:p.Glu1532Ala
NM_001354901.2:c.4541A>C	NP_001341830.1:p.Glu1514Ala
NM_001354902.2:c.4445A>C	NP_001341831.1:p.Glu1482Ala
NM_001354903.2:c.4415A>C	NP_001341832.1:p.Glu1472Ala
NM_001354904.2:c.4340A>C	NP_001341833.1:p.Glu1447Ala
NM_001354905.2:c.4238A>C	NP_001341834.1:p.Glu1413Ala
NM_001354906.2:c.3869A>C	NP_001341835.1:p.Glu1290Ala