Canonical Allele Identifier: CA035094

Gene: APC

Linked Data

• ClinVar Variation Id: 216160
• ClinVar RCV Id: RCV000310913 ; RCV000574225 ; RCV003650452 ; RCV003996972
• dbSNP Id: rs753209586
• ExAC: 5:112174632 G / A
• gnomAD v2: 5-112174632-G-A
• gnomAD v3: 5-112838935-G-A
• gnomAD v4: 5-112838935-G-A
• MyVariant Identifiers: chr5:g.112174632G>A (hg19) ; chr5:g.112838935G>A (hg38)
• PubMed: PMID:28135145

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838935G>A , CM000667.2:g.112838935G>A	GRCh38
NC_000005.9:g.112174632G>A , CM000667.1:g.112174632G>A	GRCh37
NC_000005.8:g.112202531G>A	NCBI36
NG_008481.4:g.151415G>A , LRG_130:g.151415G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3006G>A	ENSP00000484935.2:n.3006G>A
ENST00000504915.3:c.3395G>A	ENSP00000473355.2:p.Arg1132Gln
ENST00000505350.2:c.*3347G>A	ENSP00000481752.1:n.*3347G>A
ENST00000507379.6:c.3287G>A	ENSP00000423224.2:p.Arg1096Gln
ENST00000509732.6:c.3341G>A	ENSP00000426541.2:p.Arg1114Gln
ENST00000512211.7:c.3341G>A	ENSP00000423828.3:p.Arg1114Gln
ENST00000257430.9:c.3341G>A MANE Select	ENSP00000257430.4:p.Arg1114Gln
ENST00000257430.8:c.3341G>A	ENSP00000257430.4:p.Arg1114Gln
ENST00000502371.2:c.1694G>A
ENST00000507379.5:c.3287G>A	ENSP00000423224.1:p.Arg1096Gln
ENST00000508376.6:c.3341G>A	ENSP00000427089.2:p.Arg1114Gln
ENST00000508624.5:c.*2663G>A	ENSP00000424265.1:n.*2663G>A
ENST00000512211.6:c.3341G>A	ENSP00000423828.2:p.Arg1114Gln
ENST00000520401.1:c.230+9963G>A
NM_000038.5:c.3341G>A	NP_000029.2:p.Arg1114Gln
NM_001127510.2:c.3341G>A	NP_001120982.1:p.Arg1114Gln
NM_001127511.2:c.3287G>A	NP_001120983.2:p.Arg1096Gln
NM_001354895.1:c.3341G>A	NP_001341824.1:p.Arg1114Gln
NM_001354896.1:c.3395G>A	NP_001341825.1:p.Arg1132Gln
NM_001354897.1:c.3371G>A	NP_001341826.1:p.Arg1124Gln
NM_001354898.1:c.3266G>A	NP_001341827.1:p.Arg1089Gln
NM_001354899.1:c.3257G>A	NP_001341828.1:p.Arg1086Gln
NM_001354900.1:c.3218G>A	NP_001341829.1:p.Arg1073Gln
NM_001354901.1:c.3164G>A	NP_001341830.1:p.Arg1055Gln
NM_001354902.1:c.3068G>A	NP_001341831.1:p.Arg1023Gln
NM_001354903.1:c.3038G>A	NP_001341832.1:p.Arg1013Gln
NM_001354904.1:c.2963G>A	NP_001341833.1:p.Arg988Gln
NM_001354905.1:c.2861G>A	NP_001341834.1:p.Arg954Gln
NM_001354906.1:c.2492G>A	NP_001341835.1:p.Arg831Gln
NM_000038.6:c.3341G>A MANE Select	NP_000029.2:p.Arg1114Gln
NM_001127510.3:c.3341G>A	NP_001120982.1:p.Arg1114Gln
NM_001127511.3:c.3287G>A	NP_001120983.2:p.Arg1096Gln
NM_001354895.2:c.3341G>A	NP_001341824.1:p.Arg1114Gln
NM_001354896.2:c.3395G>A	NP_001341825.1:p.Arg1132Gln
NM_001354897.2:c.3371G>A	NP_001341826.1:p.Arg1124Gln
NM_001354898.2:c.3266G>A	NP_001341827.1:p.Arg1089Gln
NM_001354899.2:c.3257G>A	NP_001341828.1:p.Arg1086Gln
NM_001354900.2:c.3218G>A	NP_001341829.1:p.Arg1073Gln
NM_001354901.2:c.3164G>A	NP_001341830.1:p.Arg1055Gln
NM_001354902.2:c.3068G>A	NP_001341831.1:p.Arg1023Gln
NM_001354903.2:c.3038G>A	NP_001341832.1:p.Arg1013Gln
NM_001354904.2:c.2963G>A	NP_001341833.1:p.Arg988Gln
NM_001354905.2:c.2861G>A	NP_001341834.1:p.Arg954Gln
NM_001354906.2:c.2492G>A	NP_001341835.1:p.Arg831Gln