Canonical Allele Identifier: CA16036787

Gene: APC

Linked Data

• ClinVar Variation Id: 1377591
• ClinVar RCV Id: RCV003772642
• dbSNP Id: rs1580678398
• MyVariant Identifiers: chr5:g.112178387T>C (hg19) ; chr5:g.112842690T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842690T>C , CM000667.2:g.112842690T>C	GRCh38
NC_000005.9:g.112178387T>C , CM000667.1:g.112178387T>C	GRCh37
NC_000005.8:g.112206286T>C	NCBI36
NG_008481.4:g.155170T>C , LRG_130:g.155170T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7150T>C	ENSP00000473355.2:p.Tyr2384His
ENST00000505350.2:c.*7102T>C	ENSP00000481752.1:n.*7102T>C
ENST00000507379.6:c.7042T>C	ENSP00000423224.2:p.Tyr2348His
ENST00000509732.6:c.7096T>C	ENSP00000426541.2:p.Tyr2366His
ENST00000512211.7:c.7096T>C	ENSP00000423828.3:p.Tyr2366His
ENST00000257430.9:c.7096T>C MANE Select	ENSP00000257430.4:p.Tyr2366His
ENST00000257430.8:c.7096T>C	ENSP00000257430.4:p.Tyr2366His
ENST00000508376.6:c.7096T>C	ENSP00000427089.2:p.Tyr2366His
ENST00000508624.5:c.*6418T>C	ENSP00000424265.1:n.*6418T>C
ENST00000520401.1:c.230+13718T>C
NM_000038.5:c.7096T>C	NP_000029.2:p.Tyr2366His
NM_001127510.2:c.7096T>C	NP_001120982.1:p.Tyr2366His
NM_001127511.2:c.7042T>C	NP_001120983.2:p.Tyr2348His
NM_001354895.1:c.7096T>C	NP_001341824.1:p.Tyr2366His
NM_001354896.1:c.7150T>C	NP_001341825.1:p.Tyr2384His
NM_001354897.1:c.7126T>C	NP_001341826.1:p.Tyr2376His
NM_001354898.1:c.7021T>C	NP_001341827.1:p.Tyr2341His
NM_001354899.1:c.7012T>C	NP_001341828.1:p.Tyr2338His
NM_001354900.1:c.6973T>C	NP_001341829.1:p.Tyr2325His
NM_001354901.1:c.6919T>C	NP_001341830.1:p.Tyr2307His
NM_001354902.1:c.6823T>C	NP_001341831.1:p.Tyr2275His
NM_001354903.1:c.6793T>C	NP_001341832.1:p.Tyr2265His
NM_001354904.1:c.6718T>C	NP_001341833.1:p.Tyr2240His
NM_001354905.1:c.6616T>C	NP_001341834.1:p.Tyr2206His
NM_001354906.1:c.6247T>C	NP_001341835.1:p.Tyr2083His
NM_000038.6:c.7096T>C MANE Select	NP_000029.2:p.Tyr2366His
NM_001127510.3:c.7096T>C	NP_001120982.1:p.Tyr2366His
NM_001127511.3:c.7042T>C	NP_001120983.2:p.Tyr2348His
NM_001354895.2:c.7096T>C	NP_001341824.1:p.Tyr2366His
NM_001354896.2:c.7150T>C	NP_001341825.1:p.Tyr2384His
NM_001354897.2:c.7126T>C	NP_001341826.1:p.Tyr2376His
NM_001354898.2:c.7021T>C	NP_001341827.1:p.Tyr2341His
NM_001354899.2:c.7012T>C	NP_001341828.1:p.Tyr2338His
NM_001354900.2:c.6973T>C	NP_001341829.1:p.Tyr2325His
NM_001354901.2:c.6919T>C	NP_001341830.1:p.Tyr2307His
NM_001354902.2:c.6823T>C	NP_001341831.1:p.Tyr2275His
NM_001354903.2:c.6793T>C	NP_001341832.1:p.Tyr2265His
NM_001354904.2:c.6718T>C	NP_001341833.1:p.Tyr2240His
NM_001354905.2:c.6616T>C	NP_001341834.1:p.Tyr2206His
NM_001354906.2:c.6247T>C	NP_001341835.1:p.Tyr2083His