Canonical Allele Identifier: CA16037994

Gene: APC

Linked Data

• ClinVar Variation Id: 1171044
• ClinVar RCV Id: RCV001523928 ; RCV003771573
• dbSNP Id: rs1580685433
• gnomAD v4: 5-112843264-C-G
• MyVariant Identifiers: chr5:g.112178961C>G (hg19) ; chr5:g.112843264C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843264C>G , CM000667.2:g.112843264C>G	GRCh38
NC_000005.9:g.112178961C>G , CM000667.1:g.112178961C>G	GRCh37
NC_000005.8:g.112206860C>G	NCBI36
NG_008481.4:g.155744C>G , LRG_130:g.155744C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7724C>G	ENSP00000473355.2:p.Ser2575Cys
ENST00000505350.2:c.*7676C>G	ENSP00000481752.1:n.*7676C>G
ENST00000507379.6:c.7616C>G	ENSP00000423224.2:p.Ser2539Cys
ENST00000509732.6:c.7670C>G	ENSP00000426541.2:p.Ser2557Cys
ENST00000512211.7:c.7670C>G	ENSP00000423828.3:p.Ser2557Cys
ENST00000257430.9:c.7670C>G MANE Select	ENSP00000257430.4:p.Ser2557Cys
ENST00000257430.8:c.7670C>G	ENSP00000257430.4:p.Ser2557Cys
ENST00000508376.6:c.7670C>G	ENSP00000427089.2:p.Ser2557Cys
ENST00000520401.1:c.231-13385C>G
NM_000038.5:c.7670C>G	NP_000029.2:p.Ser2557Cys
NM_001127510.2:c.7670C>G	NP_001120982.1:p.Ser2557Cys
NM_001127511.2:c.7616C>G	NP_001120983.2:p.Ser2539Cys
NM_001354895.1:c.7670C>G	NP_001341824.1:p.Ser2557Cys
NM_001354896.1:c.7724C>G	NP_001341825.1:p.Ser2575Cys
NM_001354897.1:c.7700C>G	NP_001341826.1:p.Ser2567Cys
NM_001354898.1:c.7595C>G	NP_001341827.1:p.Ser2532Cys
NM_001354899.1:c.7586C>G	NP_001341828.1:p.Ser2529Cys
NM_001354900.1:c.7547C>G	NP_001341829.1:p.Ser2516Cys
NM_001354901.1:c.7493C>G	NP_001341830.1:p.Ser2498Cys
NM_001354902.1:c.7397C>G	NP_001341831.1:p.Ser2466Cys
NM_001354903.1:c.7367C>G	NP_001341832.1:p.Ser2456Cys
NM_001354904.1:c.7292C>G	NP_001341833.1:p.Ser2431Cys
NM_001354905.1:c.7190C>G	NP_001341834.1:p.Ser2397Cys
NM_001354906.1:c.6821C>G	NP_001341835.1:p.Ser2274Cys
NM_000038.6:c.7670C>G MANE Select	NP_000029.2:p.Ser2557Cys
NM_001127510.3:c.7670C>G	NP_001120982.1:p.Ser2557Cys
NM_001127511.3:c.7616C>G	NP_001120983.2:p.Ser2539Cys
NM_001354895.2:c.7670C>G	NP_001341824.1:p.Ser2557Cys
NM_001354896.2:c.7724C>G	NP_001341825.1:p.Ser2575Cys
NM_001354897.2:c.7700C>G	NP_001341826.1:p.Ser2567Cys
NM_001354898.2:c.7595C>G	NP_001341827.1:p.Ser2532Cys
NM_001354899.2:c.7586C>G	NP_001341828.1:p.Ser2529Cys
NM_001354900.2:c.7547C>G	NP_001341829.1:p.Ser2516Cys
NM_001354901.2:c.7493C>G	NP_001341830.1:p.Ser2498Cys
NM_001354902.2:c.7397C>G	NP_001341831.1:p.Ser2466Cys
NM_001354903.2:c.7367C>G	NP_001341832.1:p.Ser2456Cys
NM_001354904.2:c.7292C>G	NP_001341833.1:p.Ser2431Cys
NM_001354905.2:c.7190C>G	NP_001341834.1:p.Ser2397Cys
NM_001354906.2:c.6821C>G	NP_001341835.1:p.Ser2274Cys