Canonical Allele Identifier: CA446211036

Gene: APC

Linked Data

• dbSNP Id: rs1202345601
• gnomAD v2: 5-112179331-C-T
• gnomAD v4: 5-112843634-C-T
• MyVariant Identifiers: chr5:g.112179331C>T (hg19) ; chr5:g.112843634C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843634C>T , CM000667.2:g.112843634C>T	GRCh38
NC_000005.9:g.112179331C>T , CM000667.1:g.112179331C>T	GRCh37
NC_000005.8:g.112207230C>T	NCBI36
NG_008481.4:g.156114C>T , LRG_130:g.156114C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.8094C>T	ENSP00000473355.2:p.Pro2698=
ENST00000505350.2:c.*8046C>T	ENSP00000481752.1:n.*8046C>T
ENST00000507379.6:c.7986C>T	ENSP00000423224.2:p.Pro2662=
ENST00000509732.6:c.8040C>T	ENSP00000426541.2:p.Pro2680=
ENST00000512211.7:c.8040C>T	ENSP00000423828.3:p.Pro2680=
ENST00000257430.9:c.8040C>T MANE Select	ENSP00000257430.4:p.Pro2680=
ENST00000257430.8:c.8040C>T	ENSP00000257430.4:p.Pro2680=
ENST00000508376.6:c.8040C>T	ENSP00000427089.2:p.Pro2680=
ENST00000520401.1:c.231-13015C>T
NM_000038.5:c.8040C>T	NP_000029.2:p.Pro2680=
NM_001127510.2:c.8040C>T	NP_001120982.1:p.Pro2680=
NM_001127511.2:c.7986C>T	NP_001120983.2:p.Pro2662=
NM_001354895.1:c.8040C>T	NP_001341824.1:p.Pro2680=
NM_001354896.1:c.8094C>T	NP_001341825.1:p.Pro2698=
NM_001354897.1:c.8070C>T	NP_001341826.1:p.Pro2690=
NM_001354898.1:c.7965C>T	NP_001341827.1:p.Pro2655=
NM_001354899.1:c.7956C>T	NP_001341828.1:p.Pro2652=
NM_001354900.1:c.7917C>T	NP_001341829.1:p.Pro2639=
NM_001354901.1:c.7863C>T	NP_001341830.1:p.Pro2621=
NM_001354902.1:c.7767C>T	NP_001341831.1:p.Pro2589=
NM_001354903.1:c.7737C>T	NP_001341832.1:p.Pro2579=
NM_001354904.1:c.7662C>T	NP_001341833.1:p.Pro2554=
NM_001354905.1:c.7560C>T	NP_001341834.1:p.Pro2520=
NM_001354906.1:c.7191C>T	NP_001341835.1:p.Pro2397=
NM_000038.6:c.8040C>T MANE Select	NP_000029.2:p.Pro2680=
NM_001127510.3:c.8040C>T	NP_001120982.1:p.Pro2680=
NM_001127511.3:c.7986C>T	NP_001120983.2:p.Pro2662=
NM_001354895.2:c.8040C>T	NP_001341824.1:p.Pro2680=
NM_001354896.2:c.8094C>T	NP_001341825.1:p.Pro2698=
NM_001354897.2:c.8070C>T	NP_001341826.1:p.Pro2690=
NM_001354898.2:c.7965C>T	NP_001341827.1:p.Pro2655=
NM_001354899.2:c.7956C>T	NP_001341828.1:p.Pro2652=
NM_001354900.2:c.7917C>T	NP_001341829.1:p.Pro2639=
NM_001354901.2:c.7863C>T	NP_001341830.1:p.Pro2621=
NM_001354902.2:c.7767C>T	NP_001341831.1:p.Pro2589=
NM_001354903.2:c.7737C>T	NP_001341832.1:p.Pro2579=
NM_001354904.2:c.7662C>T	NP_001341833.1:p.Pro2554=
NM_001354905.2:c.7560C>T	NP_001341834.1:p.Pro2520=
NM_001354906.2:c.7191C>T	NP_001341835.1:p.Pro2397=