Canonical Allele Identifier: CA16037257

Gene: APC

Linked Data

• dbSNP Id: rs2149984276
• COSMIC: COSM5453507
• MyVariant Identifiers: chr5:g.112178604T>C (hg19) ; chr5:g.112842907T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842907T>C , CM000667.2:g.112842907T>C	GRCh38
NC_000005.9:g.112178604T>C , CM000667.1:g.112178604T>C	GRCh37
NC_000005.8:g.112206503T>C	NCBI36
NG_008481.4:g.155387T>C , LRG_130:g.155387T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.7367T>C	ENSP00000473355.2:p.Val2456Ala
ENST00000505350.2:c.*7319T>C	ENSP00000481752.1:n.*7319T>C
ENST00000507379.6:c.7259T>C	ENSP00000423224.2:p.Val2420Ala
ENST00000509732.6:c.7313T>C	ENSP00000426541.2:p.Val2438Ala
ENST00000512211.7:c.7313T>C	ENSP00000423828.3:p.Val2438Ala
ENST00000257430.9:c.7313T>C MANE Select	ENSP00000257430.4:p.Val2438Ala
ENST00000257430.8:c.7313T>C	ENSP00000257430.4:p.Val2438Ala
ENST00000508376.6:c.7313T>C	ENSP00000427089.2:p.Val2438Ala
ENST00000520401.1:c.231-13742T>C
NM_000038.5:c.7313T>C	NP_000029.2:p.Val2438Ala
NM_001127510.2:c.7313T>C	NP_001120982.1:p.Val2438Ala
NM_001127511.2:c.7259T>C	NP_001120983.2:p.Val2420Ala
NM_001354895.1:c.7313T>C	NP_001341824.1:p.Val2438Ala
NM_001354896.1:c.7367T>C	NP_001341825.1:p.Val2456Ala
NM_001354897.1:c.7343T>C	NP_001341826.1:p.Val2448Ala
NM_001354898.1:c.7238T>C	NP_001341827.1:p.Val2413Ala
NM_001354899.1:c.7229T>C	NP_001341828.1:p.Val2410Ala
NM_001354900.1:c.7190T>C	NP_001341829.1:p.Val2397Ala
NM_001354901.1:c.7136T>C	NP_001341830.1:p.Val2379Ala
NM_001354902.1:c.7040T>C	NP_001341831.1:p.Val2347Ala
NM_001354903.1:c.7010T>C	NP_001341832.1:p.Val2337Ala
NM_001354904.1:c.6935T>C	NP_001341833.1:p.Val2312Ala
NM_001354905.1:c.6833T>C	NP_001341834.1:p.Val2278Ala
NM_001354906.1:c.6464T>C	NP_001341835.1:p.Val2155Ala
NM_000038.6:c.7313T>C MANE Select	NP_000029.2:p.Val2438Ala
NM_001127510.3:c.7313T>C	NP_001120982.1:p.Val2438Ala
NM_001127511.3:c.7259T>C	NP_001120983.2:p.Val2420Ala
NM_001354895.2:c.7313T>C	NP_001341824.1:p.Val2438Ala
NM_001354896.2:c.7367T>C	NP_001341825.1:p.Val2456Ala
NM_001354897.2:c.7343T>C	NP_001341826.1:p.Val2448Ala
NM_001354898.2:c.7238T>C	NP_001341827.1:p.Val2413Ala
NM_001354899.2:c.7229T>C	NP_001341828.1:p.Val2410Ala
NM_001354900.2:c.7190T>C	NP_001341829.1:p.Val2397Ala
NM_001354901.2:c.7136T>C	NP_001341830.1:p.Val2379Ala
NM_001354902.2:c.7040T>C	NP_001341831.1:p.Val2347Ala
NM_001354903.2:c.7010T>C	NP_001341832.1:p.Val2337Ala
NM_001354904.2:c.6935T>C	NP_001341833.1:p.Val2312Ala
NM_001354905.2:c.6833T>C	NP_001341834.1:p.Val2278Ala
NM_001354906.2:c.6464T>C	NP_001341835.1:p.Val2155Ala