Canonical Allele Identifier: CA16038994

Gene: APC

Linked Data

• ClinVar Variation Id: 827474
• ClinVar RCV Id: RCV001027209
• dbSNP Id: rs1580690381
• MyVariant Identifiers: chr5:g.112179422G>T (hg19) ; chr5:g.112843725G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843725G>T , CM000667.2:g.112843725G>T	GRCh38
NC_000005.9:g.112179422G>T , CM000667.1:g.112179422G>T	GRCh37
NC_000005.8:g.112207321G>T	NCBI36
NG_008481.4:g.156205G>T , LRG_130:g.156205G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.8185G>T	ENSP00000473355.2:p.Val2729Phe
ENST00000505350.2:c.*8137G>T	ENSP00000481752.1:n.*8137G>T
ENST00000507379.6:c.8077G>T	ENSP00000423224.2:p.Val2693Phe
ENST00000509732.6:c.8131G>T	ENSP00000426541.2:p.Val2711Phe
ENST00000512211.7:c.8131G>T	ENSP00000423828.3:p.Val2711Phe
ENST00000257430.9:c.8131G>T MANE Select	ENSP00000257430.4:p.Val2711Phe
ENST00000257430.8:c.8131G>T	ENSP00000257430.4:p.Val2711Phe
ENST00000508376.6:c.8131G>T	ENSP00000427089.2:p.Val2711Phe
ENST00000520401.1:c.231-12924G>T
NM_000038.5:c.8131G>T	NP_000029.2:p.Val2711Phe
NM_001127510.2:c.8131G>T	NP_001120982.1:p.Val2711Phe
NM_001127511.2:c.8077G>T	NP_001120983.2:p.Val2693Phe
NM_001354895.1:c.8131G>T	NP_001341824.1:p.Val2711Phe
NM_001354896.1:c.8185G>T	NP_001341825.1:p.Val2729Phe
NM_001354897.1:c.8161G>T	NP_001341826.1:p.Val2721Phe
NM_001354898.1:c.8056G>T	NP_001341827.1:p.Val2686Phe
NM_001354899.1:c.8047G>T	NP_001341828.1:p.Val2683Phe
NM_001354900.1:c.8008G>T	NP_001341829.1:p.Val2670Phe
NM_001354901.1:c.7954G>T	NP_001341830.1:p.Val2652Phe
NM_001354902.1:c.7858G>T	NP_001341831.1:p.Val2620Phe
NM_001354903.1:c.7828G>T	NP_001341832.1:p.Val2610Phe
NM_001354904.1:c.7753G>T	NP_001341833.1:p.Val2585Phe
NM_001354905.1:c.7651G>T	NP_001341834.1:p.Val2551Phe
NM_001354906.1:c.7282G>T	NP_001341835.1:p.Val2428Phe
NM_000038.6:c.8131G>T MANE Select	NP_000029.2:p.Val2711Phe
NM_001127510.3:c.8131G>T	NP_001120982.1:p.Val2711Phe
NM_001127511.3:c.8077G>T	NP_001120983.2:p.Val2693Phe
NM_001354895.2:c.8131G>T	NP_001341824.1:p.Val2711Phe
NM_001354896.2:c.8185G>T	NP_001341825.1:p.Val2729Phe
NM_001354897.2:c.8161G>T	NP_001341826.1:p.Val2721Phe
NM_001354898.2:c.8056G>T	NP_001341827.1:p.Val2686Phe
NM_001354899.2:c.8047G>T	NP_001341828.1:p.Val2683Phe
NM_001354900.2:c.8008G>T	NP_001341829.1:p.Val2670Phe
NM_001354901.2:c.7954G>T	NP_001341830.1:p.Val2652Phe
NM_001354902.2:c.7858G>T	NP_001341831.1:p.Val2620Phe
NM_001354903.2:c.7828G>T	NP_001341832.1:p.Val2610Phe
NM_001354904.2:c.7753G>T	NP_001341833.1:p.Val2585Phe
NM_001354905.2:c.7651G>T	NP_001341834.1:p.Val2551Phe
NM_001354906.2:c.7282G>T	NP_001341835.1:p.Val2428Phe