Canonical Allele Identifier: CA16034114

Gene: APC

Linked Data

• ClinVar Variation Id: 419360
• ClinVar RCV Id: RCV000482628 ; RCV002356773
• dbSNP Id: rs1064793815
• MyVariant Identifiers: chr5:g.112177136G>A (hg19) ; chr5:g.112841439G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841439G>A , CM000667.2:g.112841439G>A	GRCh38
NC_000005.9:g.112177136G>A , CM000667.1:g.112177136G>A	GRCh37
NC_000005.8:g.112205035G>A	NCBI36
NG_008481.4:g.153919G>A , LRG_130:g.153919G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5899G>A	ENSP00000473355.2:p.Glu1967Lys
ENST00000505350.2:c.*5851G>A	ENSP00000481752.1:n.*5851G>A
ENST00000507379.6:c.5791G>A	ENSP00000423224.2:p.Glu1931Lys
ENST00000509732.6:c.5845G>A	ENSP00000426541.2:p.Glu1949Lys
ENST00000512211.7:c.5845G>A	ENSP00000423828.3:p.Glu1949Lys
ENST00000257430.9:c.5845G>A MANE Select	ENSP00000257430.4:p.Glu1949Lys
ENST00000257430.8:c.5845G>A	ENSP00000257430.4:p.Glu1949Lys
ENST00000508376.6:c.5845G>A	ENSP00000427089.2:p.Glu1949Lys
ENST00000508624.5:c.*5167G>A	ENSP00000424265.1:n.*5167G>A
ENST00000520401.1:c.230+12467G>A
NM_000038.5:c.5845G>A	NP_000029.2:p.Glu1949Lys
NM_001127510.2:c.5845G>A	NP_001120982.1:p.Glu1949Lys
NM_001127511.2:c.5791G>A	NP_001120983.2:p.Glu1931Lys
NM_001354895.1:c.5845G>A	NP_001341824.1:p.Glu1949Lys
NM_001354896.1:c.5899G>A	NP_001341825.1:p.Glu1967Lys
NM_001354897.1:c.5875G>A	NP_001341826.1:p.Glu1959Lys
NM_001354898.1:c.5770G>A	NP_001341827.1:p.Glu1924Lys
NM_001354899.1:c.5761G>A	NP_001341828.1:p.Glu1921Lys
NM_001354900.1:c.5722G>A	NP_001341829.1:p.Glu1908Lys
NM_001354901.1:c.5668G>A	NP_001341830.1:p.Glu1890Lys
NM_001354902.1:c.5572G>A	NP_001341831.1:p.Glu1858Lys
NM_001354903.1:c.5542G>A	NP_001341832.1:p.Glu1848Lys
NM_001354904.1:c.5467G>A	NP_001341833.1:p.Glu1823Lys
NM_001354905.1:c.5365G>A	NP_001341834.1:p.Glu1789Lys
NM_001354906.1:c.4996G>A	NP_001341835.1:p.Glu1666Lys
NM_000038.6:c.5845G>A MANE Select	NP_000029.2:p.Glu1949Lys
NM_001127510.3:c.5845G>A	NP_001120982.1:p.Glu1949Lys
NM_001127511.3:c.5791G>A	NP_001120983.2:p.Glu1931Lys
NM_001354895.2:c.5845G>A	NP_001341824.1:p.Glu1949Lys
NM_001354896.2:c.5899G>A	NP_001341825.1:p.Glu1967Lys
NM_001354897.2:c.5875G>A	NP_001341826.1:p.Glu1959Lys
NM_001354898.2:c.5770G>A	NP_001341827.1:p.Glu1924Lys
NM_001354899.2:c.5761G>A	NP_001341828.1:p.Glu1921Lys
NM_001354900.2:c.5722G>A	NP_001341829.1:p.Glu1908Lys
NM_001354901.2:c.5668G>A	NP_001341830.1:p.Glu1890Lys
NM_001354902.2:c.5572G>A	NP_001341831.1:p.Glu1858Lys
NM_001354903.2:c.5542G>A	NP_001341832.1:p.Glu1848Lys
NM_001354904.2:c.5467G>A	NP_001341833.1:p.Glu1823Lys
NM_001354905.2:c.5365G>A	NP_001341834.1:p.Glu1789Lys
NM_001354906.2:c.4996G>A	NP_001341835.1:p.Glu1666Lys