Canonical Allele Identifier: CA445963152

Gene: APC

Linked Data

• ClinVar Variation Id: 1799393
• ClinVar RCV Id: RCV002444240 ; RCV003111560 ; RCV004007466 ; RCV004066417
• dbSNP Id: rs2149883468
• gnomAD v4: 5-112838657-A-G
• MyVariant Identifiers: chr5:g.112174354A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838657A>G , CM000667.2:g.112838657A>G	GRCh38
NC_000005.9:g.112174354A>G , CM000667.1:g.112174354A>G	GRCh37
NC_000005.8:g.112202253A>G	NCBI36
NG_008481.4:g.151137A>G , LRG_130:g.151137A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2728A>G	ENSP00000484935.2:n.2728A>G
ENST00000504915.3:c.3117A>G	ENSP00000473355.2:p.Leu1039=
ENST00000505350.2:c.*3069A>G	ENSP00000481752.1:n.*3069A>G
ENST00000507379.6:c.3009A>G	ENSP00000423224.2:p.Leu1003=
ENST00000509732.6:c.3063A>G	ENSP00000426541.2:p.Leu1021=
ENST00000512211.7:c.3063A>G	ENSP00000423828.3:p.Leu1021=
ENST00000257430.9:c.3063A>G MANE Select	ENSP00000257430.4:p.Leu1021=
ENST00000257430.8:c.3063A>G	ENSP00000257430.4:p.Leu1021=
ENST00000502371.2:c.1416A>G
ENST00000507379.5:c.3009A>G	ENSP00000423224.1:p.Leu1003=
ENST00000508376.6:c.3063A>G	ENSP00000427089.2:p.Leu1021=
ENST00000508624.5:c.*2385A>G	ENSP00000424265.1:n.*2385A>G
ENST00000512211.6:c.3063A>G	ENSP00000423828.2:p.Leu1021=
ENST00000520401.1:c.230+9685A>G
NM_000038.5:c.3063A>G	NP_000029.2:p.Leu1021=
NM_001127510.2:c.3063A>G	NP_001120982.1:p.Leu1021=
NM_001127511.2:c.3009A>G	NP_001120983.2:p.Leu1003=
NM_001354895.1:c.3063A>G	NP_001341824.1:p.Leu1021=
NM_001354896.1:c.3117A>G	NP_001341825.1:p.Leu1039=
NM_001354897.1:c.3093A>G	NP_001341826.1:p.Leu1031=
NM_001354898.1:c.2988A>G	NP_001341827.1:p.Leu996=
NM_001354899.1:c.2979A>G	NP_001341828.1:p.Leu993=
NM_001354900.1:c.2940A>G	NP_001341829.1:p.Leu980=
NM_001354901.1:c.2886A>G	NP_001341830.1:p.Leu962=
NM_001354902.1:c.2790A>G	NP_001341831.1:p.Leu930=
NM_001354903.1:c.2760A>G	NP_001341832.1:p.Leu920=
NM_001354904.1:c.2685A>G	NP_001341833.1:p.Leu895=
NM_001354905.1:c.2583A>G	NP_001341834.1:p.Leu861=
NM_001354906.1:c.2214A>G	NP_001341835.1:p.Leu738=
NM_000038.6:c.3063A>G MANE Select	NP_000029.2:p.Leu1021=
NM_001127510.3:c.3063A>G	NP_001120982.1:p.Leu1021=
NM_001127511.3:c.3009A>G	NP_001120983.2:p.Leu1003=
NM_001354895.2:c.3063A>G	NP_001341824.1:p.Leu1021=
NM_001354896.2:c.3117A>G	NP_001341825.1:p.Leu1039=
NM_001354897.2:c.3093A>G	NP_001341826.1:p.Leu1031=
NM_001354898.2:c.2988A>G	NP_001341827.1:p.Leu996=
NM_001354899.2:c.2979A>G	NP_001341828.1:p.Leu993=
NM_001354900.2:c.2940A>G	NP_001341829.1:p.Leu980=
NM_001354901.2:c.2886A>G	NP_001341830.1:p.Leu962=
NM_001354902.2:c.2790A>G	NP_001341831.1:p.Leu930=
NM_001354903.2:c.2760A>G	NP_001341832.1:p.Leu920=
NM_001354904.2:c.2685A>G	NP_001341833.1:p.Leu895=
NM_001354905.2:c.2583A>G	NP_001341834.1:p.Leu861=
NM_001354906.2:c.2214A>G	NP_001341835.1:p.Leu738=