Canonical Allele Identifier: CA16038304

Gene: APC

Linked Data

• ClinVar Variation Id: 1999738
• ClinVar RCV Id: RCV003742891
• dbSNP Id: rs201625142
• MyVariant Identifiers: chr5:g.112179104C>A (hg19) ; chr5:g.112843407C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843407C>A , CM000667.2:g.112843407C>A	GRCh38
NC_000005.9:g.112179104C>A , CM000667.1:g.112179104C>A	GRCh37
NC_000005.8:g.112207003C>A	NCBI36
NG_008481.4:g.155887C>A , LRG_130:g.155887C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7867C>A	ENSP00000473355.2:p.Gln2623Lys
ENST00000505350.2:c.*7819C>A	ENSP00000481752.1:n.*7819C>A
ENST00000507379.6:c.7759C>A	ENSP00000423224.2:p.Gln2587Lys
ENST00000509732.6:c.7813C>A	ENSP00000426541.2:p.Gln2605Lys
ENST00000512211.7:c.7813C>A	ENSP00000423828.3:p.Gln2605Lys
ENST00000257430.9:c.7813C>A MANE Select	ENSP00000257430.4:p.Gln2605Lys
ENST00000257430.8:c.7813C>A	ENSP00000257430.4:p.Gln2605Lys
ENST00000508376.6:c.7813C>A	ENSP00000427089.2:p.Gln2605Lys
ENST00000520401.1:c.231-13242C>A
NM_000038.5:c.7813C>A	NP_000029.2:p.Gln2605Lys
NM_001127510.2:c.7813C>A	NP_001120982.1:p.Gln2605Lys
NM_001127511.2:c.7759C>A	NP_001120983.2:p.Gln2587Lys
NM_001354895.1:c.7813C>A	NP_001341824.1:p.Gln2605Lys
NM_001354896.1:c.7867C>A	NP_001341825.1:p.Gln2623Lys
NM_001354897.1:c.7843C>A	NP_001341826.1:p.Gln2615Lys
NM_001354898.1:c.7738C>A	NP_001341827.1:p.Gln2580Lys
NM_001354899.1:c.7729C>A	NP_001341828.1:p.Gln2577Lys
NM_001354900.1:c.7690C>A	NP_001341829.1:p.Gln2564Lys
NM_001354901.1:c.7636C>A	NP_001341830.1:p.Gln2546Lys
NM_001354902.1:c.7540C>A	NP_001341831.1:p.Gln2514Lys
NM_001354903.1:c.7510C>A	NP_001341832.1:p.Gln2504Lys
NM_001354904.1:c.7435C>A	NP_001341833.1:p.Gln2479Lys
NM_001354905.1:c.7333C>A	NP_001341834.1:p.Gln2445Lys
NM_001354906.1:c.6964C>A	NP_001341835.1:p.Gln2322Lys
NM_000038.6:c.7813C>A MANE Select	NP_000029.2:p.Gln2605Lys
NM_001127510.3:c.7813C>A	NP_001120982.1:p.Gln2605Lys
NM_001127511.3:c.7759C>A	NP_001120983.2:p.Gln2587Lys
NM_001354895.2:c.7813C>A	NP_001341824.1:p.Gln2605Lys
NM_001354896.2:c.7867C>A	NP_001341825.1:p.Gln2623Lys
NM_001354897.2:c.7843C>A	NP_001341826.1:p.Gln2615Lys
NM_001354898.2:c.7738C>A	NP_001341827.1:p.Gln2580Lys
NM_001354899.2:c.7729C>A	NP_001341828.1:p.Gln2577Lys
NM_001354900.2:c.7690C>A	NP_001341829.1:p.Gln2564Lys
NM_001354901.2:c.7636C>A	NP_001341830.1:p.Gln2546Lys
NM_001354902.2:c.7540C>A	NP_001341831.1:p.Gln2514Lys
NM_001354903.2:c.7510C>A	NP_001341832.1:p.Gln2504Lys
NM_001354904.2:c.7435C>A	NP_001341833.1:p.Gln2479Lys
NM_001354905.2:c.7333C>A	NP_001341834.1:p.Gln2445Lys
NM_001354906.2:c.6964C>A	NP_001341835.1:p.Gln2322Lys