Canonical Allele Identifier: CA16024220

Gene: APC

Linked Data

• ClinVar Variation Id: 818954
• ClinVar RCV Id: RCV001011078 ; RCV003744691
• dbSNP Id: rs371065509
• MyVariant Identifiers: chr5:g.112157611A>C (hg19) ; chr5:g.112821914A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821914A>C , CM000667.2:g.112821914A>C	GRCh38
NC_000005.9:g.112157611A>C , CM000667.1:g.112157611A>C	GRCh37
NC_000005.8:g.112185510A>C	NCBI36
NG_008481.4:g.134394A>C , LRG_130:g.134394A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1331A>C	ENSP00000484935.2:p.His444Pro
ENST00000504915.3:c.1331A>C	ENSP00000473355.2:p.His444Pro
ENST00000505084.2:n.1387A>C
ENST00000505350.2:c.*1337A>C	ENSP00000481752.1:n.*1337A>C
ENST00000507379.6:c.1277A>C	ENSP00000423224.2:p.His426Pro
ENST00000509732.6:c.1331A>C	ENSP00000426541.2:p.His444Pro
ENST00000512211.7:c.1331A>C	ENSP00000423828.3:p.His444Pro
ENST00000257430.9:c.1331A>C MANE Select	ENSP00000257430.4:p.His444Pro
ENST00000257430.8:c.1331A>C	ENSP00000257430.4:p.His444Pro
ENST00000502371.2:c.19A>C
ENST00000507379.5:c.1277A>C	ENSP00000423224.1:p.His426Pro
ENST00000508376.6:c.1331A>C	ENSP00000427089.2:p.His444Pro
ENST00000508624.5:c.*653A>C	ENSP00000424265.1:n.*653A>C
ENST00000512211.6:c.1331A>C	ENSP00000423828.2:p.His444Pro
NM_000038.5:c.1331A>C	NP_000029.2:p.His444Pro
NM_001127510.2:c.1331A>C	NP_001120982.1:p.His444Pro
NM_001127511.2:c.1277A>C	NP_001120983.2:p.His426Pro
NM_001354895.1:c.1331A>C	NP_001341824.1:p.His444Pro
NM_001354896.1:c.1331A>C	NP_001341825.1:p.His444Pro
NM_001354897.1:c.1361A>C	NP_001341826.1:p.His454Pro
NM_001354898.1:c.1256A>C	NP_001341827.1:p.His419Pro
NM_001354899.1:c.1247A>C	NP_001341828.1:p.His416Pro
NM_001354900.1:c.1154A>C	NP_001341829.1:p.His385Pro
NM_001354901.1:c.1154A>C	NP_001341830.1:p.His385Pro
NM_001354902.1:c.1058A>C	NP_001341831.1:p.His353Pro
NM_001354903.1:c.1028A>C	NP_001341832.1:p.His343Pro
NM_001354904.1:c.953A>C	NP_001341833.1:p.His318Pro
NM_001354905.1:c.851A>C	NP_001341834.1:p.His284Pro
NM_001354906.1:c.482A>C	NP_001341835.1:p.His161Pro
NM_000038.6:c.1331A>C MANE Select	NP_000029.2:p.His444Pro
NM_001127510.3:c.1331A>C	NP_001120982.1:p.His444Pro
NM_001127511.3:c.1277A>C	NP_001120983.2:p.His426Pro
NM_001354895.2:c.1331A>C	NP_001341824.1:p.His444Pro
NM_001354896.2:c.1331A>C	NP_001341825.1:p.His444Pro
NM_001354897.2:c.1361A>C	NP_001341826.1:p.His454Pro
NM_001354898.2:c.1256A>C	NP_001341827.1:p.His419Pro
NM_001354899.2:c.1247A>C	NP_001341828.1:p.His416Pro
NM_001354900.2:c.1154A>C	NP_001341829.1:p.His385Pro
NM_001354901.2:c.1154A>C	NP_001341830.1:p.His385Pro
NM_001354902.2:c.1058A>C	NP_001341831.1:p.His353Pro
NM_001354903.2:c.1028A>C	NP_001341832.1:p.His343Pro
NM_001354904.2:c.953A>C	NP_001341833.1:p.His318Pro
NM_001354905.2:c.851A>C	NP_001341834.1:p.His284Pro
NM_001354906.2:c.482A>C	NP_001341835.1:p.His161Pro