Canonical Allele Identifier: CA445963255

Gene: APC

Linked Data

• ClinVar Variation Id: 490240
• ClinVar RCV Id: RCV000582279 ; RCV001155354 ; RCV003537256
• dbSNP Id: rs1554084025
• gnomAD v4: 5-112837817-T-C
• MyVariant Identifiers: chr5:g.112173514T>C (hg19) ; chr5:g.112837817T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837817T>C , CM000667.2:g.112837817T>C	GRCh38
NC_000005.9:g.112173514T>C , CM000667.1:g.112173514T>C	GRCh37
NC_000005.8:g.112201413T>C	NCBI36
NG_008481.4:g.150297T>C , LRG_130:g.150297T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1888T>C	ENSP00000484935.2:n.1888T>C
ENST00000504915.3:c.2277T>C	ENSP00000473355.2:p.Asn759=
ENST00000505350.2:c.*2229T>C	ENSP00000481752.1:n.*2229T>C
ENST00000507379.6:c.2169T>C	ENSP00000423224.2:p.Asn723=
ENST00000509732.6:c.2223T>C	ENSP00000426541.2:p.Asn741=
ENST00000512211.7:c.2223T>C	ENSP00000423828.3:p.Asn741=
ENST00000257430.9:c.2223T>C MANE Select	ENSP00000257430.4:p.Asn741=
ENST00000257430.8:c.2223T>C	ENSP00000257430.4:p.Asn741=
ENST00000502371.2:c.576T>C
ENST00000507379.5:c.2169T>C	ENSP00000423224.1:p.Asn723=
ENST00000508376.6:c.2223T>C	ENSP00000427089.2:p.Asn741=
ENST00000508624.5:c.*1545T>C	ENSP00000424265.1:n.*1545T>C
ENST00000512211.6:c.2223T>C	ENSP00000423828.2:p.Asn741=
ENST00000520401.1:c.230+8845T>C
NM_000038.5:c.2223T>C	NP_000029.2:p.Asn741=
NM_001127510.2:c.2223T>C	NP_001120982.1:p.Asn741=
NM_001127511.2:c.2169T>C	NP_001120983.2:p.Asn723=
NM_001354895.1:c.2223T>C	NP_001341824.1:p.Asn741=
NM_001354896.1:c.2277T>C	NP_001341825.1:p.Asn759=
NM_001354897.1:c.2253T>C	NP_001341826.1:p.Asn751=
NM_001354898.1:c.2148T>C	NP_001341827.1:p.Asn716=
NM_001354899.1:c.2139T>C	NP_001341828.1:p.Asn713=
NM_001354900.1:c.2100T>C	NP_001341829.1:p.Asn700=
NM_001354901.1:c.2046T>C	NP_001341830.1:p.Asn682=
NM_001354902.1:c.1950T>C	NP_001341831.1:p.Asn650=
NM_001354903.1:c.1920T>C	NP_001341832.1:p.Asn640=
NM_001354904.1:c.1845T>C	NP_001341833.1:p.Asn615=
NM_001354905.1:c.1743T>C	NP_001341834.1:p.Asn581=
NM_001354906.1:c.1374T>C	NP_001341835.1:p.Asn458=
NM_000038.6:c.2223T>C MANE Select	NP_000029.2:p.Asn741=
NM_001127510.3:c.2223T>C	NP_001120982.1:p.Asn741=
NM_001127511.3:c.2169T>C	NP_001120983.2:p.Asn723=
NM_001354895.2:c.2223T>C	NP_001341824.1:p.Asn741=
NM_001354896.2:c.2277T>C	NP_001341825.1:p.Asn759=
NM_001354897.2:c.2253T>C	NP_001341826.1:p.Asn751=
NM_001354898.2:c.2148T>C	NP_001341827.1:p.Asn716=
NM_001354899.2:c.2139T>C	NP_001341828.1:p.Asn713=
NM_001354900.2:c.2100T>C	NP_001341829.1:p.Asn700=
NM_001354901.2:c.2046T>C	NP_001341830.1:p.Asn682=
NM_001354902.2:c.1950T>C	NP_001341831.1:p.Asn650=
NM_001354903.2:c.1920T>C	NP_001341832.1:p.Asn640=
NM_001354904.2:c.1845T>C	NP_001341833.1:p.Asn615=
NM_001354905.2:c.1743T>C	NP_001341834.1:p.Asn581=
NM_001354906.2:c.1374T>C	NP_001341835.1:p.Asn458=