Canonical Allele Identifier: CA446210267

Gene: APC

Linked Data

• ClinVar Variation Id: 486789
• ClinVar RCV Id: RCV003744575
• dbSNP Id: rs1384328057
• gnomAD v2: 5-112178620-C-T
• gnomAD v3: 5-112842923-C-T
• gnomAD v4: 5-112842923-C-T
• MyVariant Identifiers: chr5:g.112178620C>T (hg19) ; chr5:g.112842923C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842923C>T , CM000667.2:g.112842923C>T	GRCh38
NC_000005.9:g.112178620C>T , CM000667.1:g.112178620C>T	GRCh37
NC_000005.8:g.112206519C>T	NCBI36
NG_008481.4:g.155403C>T , LRG_130:g.155403C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.7383C>T	ENSP00000473355.2:p.Phe2461=
ENST00000505350.2:c.*7335C>T	ENSP00000481752.1:n.*7335C>T
ENST00000507379.6:c.7275C>T	ENSP00000423224.2:p.Phe2425=
ENST00000509732.6:c.7329C>T	ENSP00000426541.2:p.Phe2443=
ENST00000512211.7:c.7329C>T	ENSP00000423828.3:p.Phe2443=
ENST00000257430.9:c.7329C>T MANE Select	ENSP00000257430.4:p.Phe2443=
ENST00000257430.8:c.7329C>T	ENSP00000257430.4:p.Phe2443=
ENST00000508376.6:c.7329C>T	ENSP00000427089.2:p.Phe2443=
ENST00000520401.1:c.231-13726C>T
NM_000038.5:c.7329C>T	NP_000029.2:p.Phe2443=
NM_001127510.2:c.7329C>T	NP_001120982.1:p.Phe2443=
NM_001127511.2:c.7275C>T	NP_001120983.2:p.Phe2425=
NM_001354895.1:c.7329C>T	NP_001341824.1:p.Phe2443=
NM_001354896.1:c.7383C>T	NP_001341825.1:p.Phe2461=
NM_001354897.1:c.7359C>T	NP_001341826.1:p.Phe2453=
NM_001354898.1:c.7254C>T	NP_001341827.1:p.Phe2418=
NM_001354899.1:c.7245C>T	NP_001341828.1:p.Phe2415=
NM_001354900.1:c.7206C>T	NP_001341829.1:p.Phe2402=
NM_001354901.1:c.7152C>T	NP_001341830.1:p.Phe2384=
NM_001354902.1:c.7056C>T	NP_001341831.1:p.Phe2352=
NM_001354903.1:c.7026C>T	NP_001341832.1:p.Phe2342=
NM_001354904.1:c.6951C>T	NP_001341833.1:p.Phe2317=
NM_001354905.1:c.6849C>T	NP_001341834.1:p.Phe2283=
NM_001354906.1:c.6480C>T	NP_001341835.1:p.Phe2160=
NM_000038.6:c.7329C>T MANE Select	NP_000029.2:p.Phe2443=
NM_001127510.3:c.7329C>T	NP_001120982.1:p.Phe2443=
NM_001127511.3:c.7275C>T	NP_001120983.2:p.Phe2425=
NM_001354895.2:c.7329C>T	NP_001341824.1:p.Phe2443=
NM_001354896.2:c.7383C>T	NP_001341825.1:p.Phe2461=
NM_001354897.2:c.7359C>T	NP_001341826.1:p.Phe2453=
NM_001354898.2:c.7254C>T	NP_001341827.1:p.Phe2418=
NM_001354899.2:c.7245C>T	NP_001341828.1:p.Phe2415=
NM_001354900.2:c.7206C>T	NP_001341829.1:p.Phe2402=
NM_001354901.2:c.7152C>T	NP_001341830.1:p.Phe2384=
NM_001354902.2:c.7056C>T	NP_001341831.1:p.Phe2352=
NM_001354903.2:c.7026C>T	NP_001341832.1:p.Phe2342=
NM_001354904.2:c.6951C>T	NP_001341833.1:p.Phe2317=
NM_001354905.2:c.6849C>T	NP_001341834.1:p.Phe2283=
NM_001354906.2:c.6480C>T	NP_001341835.1:p.Phe2160=