Canonical Allele Identifier: CA16038808

Gene: APC

Linked Data

• ClinVar Variation Id: 584482
• ClinVar RCV Id: RCV000708644
• dbSNP Id: rs1561620240
• MyVariant Identifiers: chr5:g.112179341G>C (hg19) ; chr5:g.112843644G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843644G>C , CM000667.2:g.112843644G>C	GRCh38
NC_000005.9:g.112179341G>C , CM000667.1:g.112179341G>C	GRCh37
NC_000005.8:g.112207240G>C	NCBI36
NG_008481.4:g.156124G>C , LRG_130:g.156124G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.8104G>C	ENSP00000473355.2:p.Asp2702His
ENST00000505350.2:c.*8056G>C	ENSP00000481752.1:n.*8056G>C
ENST00000507379.6:c.7996G>C	ENSP00000423224.2:p.Asp2666His
ENST00000509732.6:c.8050G>C	ENSP00000426541.2:p.Asp2684His
ENST00000512211.7:c.8050G>C	ENSP00000423828.3:p.Asp2684His
ENST00000257430.9:c.8050G>C MANE Select	ENSP00000257430.4:p.Asp2684His
ENST00000257430.8:c.8050G>C	ENSP00000257430.4:p.Asp2684His
ENST00000508376.6:c.8050G>C	ENSP00000427089.2:p.Asp2684His
ENST00000520401.1:c.231-13005G>C
NM_000038.5:c.8050G>C	NP_000029.2:p.Asp2684His
NM_001127510.2:c.8050G>C	NP_001120982.1:p.Asp2684His
NM_001127511.2:c.7996G>C	NP_001120983.2:p.Asp2666His
NM_001354895.1:c.8050G>C	NP_001341824.1:p.Asp2684His
NM_001354896.1:c.8104G>C	NP_001341825.1:p.Asp2702His
NM_001354897.1:c.8080G>C	NP_001341826.1:p.Asp2694His
NM_001354898.1:c.7975G>C	NP_001341827.1:p.Asp2659His
NM_001354899.1:c.7966G>C	NP_001341828.1:p.Asp2656His
NM_001354900.1:c.7927G>C	NP_001341829.1:p.Asp2643His
NM_001354901.1:c.7873G>C	NP_001341830.1:p.Asp2625His
NM_001354902.1:c.7777G>C	NP_001341831.1:p.Asp2593His
NM_001354903.1:c.7747G>C	NP_001341832.1:p.Asp2583His
NM_001354904.1:c.7672G>C	NP_001341833.1:p.Asp2558His
NM_001354905.1:c.7570G>C	NP_001341834.1:p.Asp2524His
NM_001354906.1:c.7201G>C	NP_001341835.1:p.Asp2401His
NM_000038.6:c.8050G>C MANE Select	NP_000029.2:p.Asp2684His
NM_001127510.3:c.8050G>C	NP_001120982.1:p.Asp2684His
NM_001127511.3:c.7996G>C	NP_001120983.2:p.Asp2666His
NM_001354895.2:c.8050G>C	NP_001341824.1:p.Asp2684His
NM_001354896.2:c.8104G>C	NP_001341825.1:p.Asp2702His
NM_001354897.2:c.8080G>C	NP_001341826.1:p.Asp2694His
NM_001354898.2:c.7975G>C	NP_001341827.1:p.Asp2659His
NM_001354899.2:c.7966G>C	NP_001341828.1:p.Asp2656His
NM_001354900.2:c.7927G>C	NP_001341829.1:p.Asp2643His
NM_001354901.2:c.7873G>C	NP_001341830.1:p.Asp2625His
NM_001354902.2:c.7777G>C	NP_001341831.1:p.Asp2593His
NM_001354903.2:c.7747G>C	NP_001341832.1:p.Asp2583His
NM_001354904.2:c.7672G>C	NP_001341833.1:p.Asp2558His
NM_001354905.2:c.7570G>C	NP_001341834.1:p.Asp2524His
NM_001354906.2:c.7201G>C	NP_001341835.1:p.Asp2401His