Canonical Allele Identifier: CA16028012

Gene: APC

Linked Data

• ClinVar Variation Id: 1719864
• ClinVar RCV Id: RCV002443306 ; RCV003743898
• dbSNP Id: rs753314927
• MyVariant Identifiers: chr5:g.112174341A>G (hg19) ; chr5:g.112838644A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838644A>G , CM000667.2:g.112838644A>G	GRCh38
NC_000005.9:g.112174341A>G , CM000667.1:g.112174341A>G	GRCh37
NC_000005.8:g.112202240A>G	NCBI36
NG_008481.4:g.151124A>G , LRG_130:g.151124A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2715A>G	ENSP00000484935.2:n.2715A>G
ENST00000504915.3:c.3104A>G	ENSP00000473355.2:p.Asn1035Ser
ENST00000505350.2:c.*3056A>G	ENSP00000481752.1:n.*3056A>G
ENST00000507379.6:c.2996A>G	ENSP00000423224.2:p.Asn999Ser
ENST00000509732.6:c.3050A>G	ENSP00000426541.2:p.Asn1017Ser
ENST00000512211.7:c.3050A>G	ENSP00000423828.3:p.Asn1017Ser
ENST00000257430.9:c.3050A>G MANE Select	ENSP00000257430.4:p.Asn1017Ser
ENST00000257430.8:c.3050A>G	ENSP00000257430.4:p.Asn1017Ser
ENST00000502371.2:c.1403A>G
ENST00000507379.5:c.2996A>G	ENSP00000423224.1:p.Asn999Ser
ENST00000508376.6:c.3050A>G	ENSP00000427089.2:p.Asn1017Ser
ENST00000508624.5:c.*2372A>G	ENSP00000424265.1:n.*2372A>G
ENST00000512211.6:c.3050A>G	ENSP00000423828.2:p.Asn1017Ser
ENST00000520401.1:c.230+9672A>G
NM_000038.5:c.3050A>G	NP_000029.2:p.Asn1017Ser
NM_001127510.2:c.3050A>G	NP_001120982.1:p.Asn1017Ser
NM_001127511.2:c.2996A>G	NP_001120983.2:p.Asn999Ser
NM_001354895.1:c.3050A>G	NP_001341824.1:p.Asn1017Ser
NM_001354896.1:c.3104A>G	NP_001341825.1:p.Asn1035Ser
NM_001354897.1:c.3080A>G	NP_001341826.1:p.Asn1027Ser
NM_001354898.1:c.2975A>G	NP_001341827.1:p.Asn992Ser
NM_001354899.1:c.2966A>G	NP_001341828.1:p.Asn989Ser
NM_001354900.1:c.2927A>G	NP_001341829.1:p.Asn976Ser
NM_001354901.1:c.2873A>G	NP_001341830.1:p.Asn958Ser
NM_001354902.1:c.2777A>G	NP_001341831.1:p.Asn926Ser
NM_001354903.1:c.2747A>G	NP_001341832.1:p.Asn916Ser
NM_001354904.1:c.2672A>G	NP_001341833.1:p.Asn891Ser
NM_001354905.1:c.2570A>G	NP_001341834.1:p.Asn857Ser
NM_001354906.1:c.2201A>G	NP_001341835.1:p.Asn734Ser
NM_000038.6:c.3050A>G MANE Select	NP_000029.2:p.Asn1017Ser
NM_001127510.3:c.3050A>G	NP_001120982.1:p.Asn1017Ser
NM_001127511.3:c.2996A>G	NP_001120983.2:p.Asn999Ser
NM_001354895.2:c.3050A>G	NP_001341824.1:p.Asn1017Ser
NM_001354896.2:c.3104A>G	NP_001341825.1:p.Asn1035Ser
NM_001354897.2:c.3080A>G	NP_001341826.1:p.Asn1027Ser
NM_001354898.2:c.2975A>G	NP_001341827.1:p.Asn992Ser
NM_001354899.2:c.2966A>G	NP_001341828.1:p.Asn989Ser
NM_001354900.2:c.2927A>G	NP_001341829.1:p.Asn976Ser
NM_001354901.2:c.2873A>G	NP_001341830.1:p.Asn958Ser
NM_001354902.2:c.2777A>G	NP_001341831.1:p.Asn926Ser
NM_001354903.2:c.2747A>G	NP_001341832.1:p.Asn916Ser
NM_001354904.2:c.2672A>G	NP_001341833.1:p.Asn891Ser
NM_001354905.2:c.2570A>G	NP_001341834.1:p.Asn857Ser
NM_001354906.2:c.2201A>G	NP_001341835.1:p.Asn734Ser