Canonical Allele Identifier: CA16037995

Gene: APC

Linked Data

• ClinVar Variation Id: 827187
• ClinVar RCV Id: RCV001026689 ; RCV003769629
• dbSNP Id: rs1580685433
• MyVariant Identifiers: chr5:g.112178961C>T (hg19) ; chr5:g.112843264C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7724C>T	ENSP00000473355.2:p.Ser2575Phe
ENST00000505350.2:c.*7676C>T	ENSP00000481752.1:n.*7676C>T
ENST00000507379.6:c.7616C>T	ENSP00000423224.2:p.Ser2539Phe
ENST00000509732.6:c.7670C>T	ENSP00000426541.2:p.Ser2557Phe
ENST00000512211.7:c.7670C>T	ENSP00000423828.3:p.Ser2557Phe
ENST00000257430.9:c.7670C>T MANE Select	ENSP00000257430.4:p.Ser2557Phe
ENST00000257430.8:c.7670C>T	ENSP00000257430.4:p.Ser2557Phe
ENST00000508376.6:c.7670C>T	ENSP00000427089.2:p.Ser2557Phe
ENST00000520401.1:c.231-13385C>T
NM_000038.5:c.7670C>T	NP_000029.2:p.Ser2557Phe
NM_001127510.2:c.7670C>T	NP_001120982.1:p.Ser2557Phe
NM_001127511.2:c.7616C>T	NP_001120983.2:p.Ser2539Phe
NM_001354895.1:c.7670C>T	NP_001341824.1:p.Ser2557Phe
NM_001354896.1:c.7724C>T	NP_001341825.1:p.Ser2575Phe
NM_001354897.1:c.7700C>T	NP_001341826.1:p.Ser2567Phe
NM_001354898.1:c.7595C>T	NP_001341827.1:p.Ser2532Phe
NM_001354899.1:c.7586C>T	NP_001341828.1:p.Ser2529Phe
NM_001354900.1:c.7547C>T	NP_001341829.1:p.Ser2516Phe
NM_001354901.1:c.7493C>T	NP_001341830.1:p.Ser2498Phe
NM_001354902.1:c.7397C>T	NP_001341831.1:p.Ser2466Phe
NM_001354903.1:c.7367C>T	NP_001341832.1:p.Ser2456Phe
NM_001354904.1:c.7292C>T	NP_001341833.1:p.Ser2431Phe
NM_001354905.1:c.7190C>T	NP_001341834.1:p.Ser2397Phe
NM_001354906.1:c.6821C>T	NP_001341835.1:p.Ser2274Phe
NM_000038.6:c.7670C>T MANE Select	NP_000029.2:p.Ser2557Phe
NM_001127510.3:c.7670C>T	NP_001120982.1:p.Ser2557Phe
NM_001127511.3:c.7616C>T	NP_001120983.2:p.Ser2539Phe
NM_001354895.2:c.7670C>T	NP_001341824.1:p.Ser2557Phe
NM_001354896.2:c.7724C>T	NP_001341825.1:p.Ser2575Phe
NM_001354897.2:c.7700C>T	NP_001341826.1:p.Ser2567Phe
NM_001354898.2:c.7595C>T	NP_001341827.1:p.Ser2532Phe
NM_001354899.2:c.7586C>T	NP_001341828.1:p.Ser2529Phe
NM_001354900.2:c.7547C>T	NP_001341829.1:p.Ser2516Phe
NM_001354901.2:c.7493C>T	NP_001341830.1:p.Ser2498Phe
NM_001354902.2:c.7397C>T	NP_001341831.1:p.Ser2466Phe
NM_001354903.2:c.7367C>T	NP_001341832.1:p.Ser2456Phe
NM_001354904.2:c.7292C>T	NP_001341833.1:p.Ser2431Phe
NM_001354905.2:c.7190C>T	NP_001341834.1:p.Ser2397Phe
NM_001354906.2:c.6821C>T	NP_001341835.1:p.Ser2274Phe