Canonical Allele Identifier: CA16038220

Gene: APC

Linked Data

• ClinVar Variation Id: 2841190
• ClinVar RCV Id: RCV003652389
• dbSNP Id: rs2149993564
• MyVariant Identifiers: chr5:g.112179065G>C (hg19) ; chr5:g.112843368G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843368G>C , CM000667.2:g.112843368G>C	GRCh38
NC_000005.9:g.112179065G>C , CM000667.1:g.112179065G>C	GRCh37
NC_000005.8:g.112206964G>C	NCBI36
NG_008481.4:g.155848G>C , LRG_130:g.155848G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7828G>C	ENSP00000473355.2:p.Val2610Leu
ENST00000505350.2:c.*7780G>C	ENSP00000481752.1:n.*7780G>C
ENST00000507379.6:c.7720G>C	ENSP00000423224.2:p.Val2574Leu
ENST00000509732.6:c.7774G>C	ENSP00000426541.2:p.Val2592Leu
ENST00000512211.7:c.7774G>C	ENSP00000423828.3:p.Val2592Leu
ENST00000257430.9:c.7774G>C MANE Select	ENSP00000257430.4:p.Val2592Leu
ENST00000257430.8:c.7774G>C	ENSP00000257430.4:p.Val2592Leu
ENST00000508376.6:c.7774G>C	ENSP00000427089.2:p.Val2592Leu
ENST00000520401.1:c.231-13281G>C
NM_000038.5:c.7774G>C	NP_000029.2:p.Val2592Leu
NM_001127510.2:c.7774G>C	NP_001120982.1:p.Val2592Leu
NM_001127511.2:c.7720G>C	NP_001120983.2:p.Val2574Leu
NM_001354895.1:c.7774G>C	NP_001341824.1:p.Val2592Leu
NM_001354896.1:c.7828G>C	NP_001341825.1:p.Val2610Leu
NM_001354897.1:c.7804G>C	NP_001341826.1:p.Val2602Leu
NM_001354898.1:c.7699G>C	NP_001341827.1:p.Val2567Leu
NM_001354899.1:c.7690G>C	NP_001341828.1:p.Val2564Leu
NM_001354900.1:c.7651G>C	NP_001341829.1:p.Val2551Leu
NM_001354901.1:c.7597G>C	NP_001341830.1:p.Val2533Leu
NM_001354902.1:c.7501G>C	NP_001341831.1:p.Val2501Leu
NM_001354903.1:c.7471G>C	NP_001341832.1:p.Val2491Leu
NM_001354904.1:c.7396G>C	NP_001341833.1:p.Val2466Leu
NM_001354905.1:c.7294G>C	NP_001341834.1:p.Val2432Leu
NM_001354906.1:c.6925G>C	NP_001341835.1:p.Val2309Leu
NM_000038.6:c.7774G>C MANE Select	NP_000029.2:p.Val2592Leu
NM_001127510.3:c.7774G>C	NP_001120982.1:p.Val2592Leu
NM_001127511.3:c.7720G>C	NP_001120983.2:p.Val2574Leu
NM_001354895.2:c.7774G>C	NP_001341824.1:p.Val2592Leu
NM_001354896.2:c.7828G>C	NP_001341825.1:p.Val2610Leu
NM_001354897.2:c.7804G>C	NP_001341826.1:p.Val2602Leu
NM_001354898.2:c.7699G>C	NP_001341827.1:p.Val2567Leu
NM_001354899.2:c.7690G>C	NP_001341828.1:p.Val2564Leu
NM_001354900.2:c.7651G>C	NP_001341829.1:p.Val2551Leu
NM_001354901.2:c.7597G>C	NP_001341830.1:p.Val2533Leu
NM_001354902.2:c.7501G>C	NP_001341831.1:p.Val2501Leu
NM_001354903.2:c.7471G>C	NP_001341832.1:p.Val2491Leu
NM_001354904.2:c.7396G>C	NP_001341833.1:p.Val2466Leu
NM_001354905.2:c.7294G>C	NP_001341834.1:p.Val2432Leu
NM_001354906.2:c.6925G>C	NP_001341835.1:p.Val2309Leu