Canonical Allele Identifier: CA446208756

Gene: APC

Linked Data

• ClinVar Variation Id: 921390
• ClinVar RCV Id: RCV001180757 ; RCV004006690
• dbSNP Id: rs1765826793
• gnomAD v4: 5-112840604-T-C
• MyVariant Identifiers: chr5:g.112176301T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840604T>C , CM000667.2:g.112840604T>C	GRCh38
NC_000005.9:g.112176301T>C , CM000667.1:g.112176301T>C	GRCh37
NC_000005.8:g.112204200T>C	NCBI36
NG_008481.4:g.153084T>C , LRG_130:g.153084T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5064T>C	ENSP00000473355.2:p.Ala1688=
ENST00000505350.2:c.*5016T>C	ENSP00000481752.1:n.*5016T>C
ENST00000507379.6:c.4956T>C	ENSP00000423224.2:p.Ala1652=
ENST00000509732.6:c.5010T>C	ENSP00000426541.2:p.Ala1670=
ENST00000512211.7:c.5010T>C	ENSP00000423828.3:p.Ala1670=
ENST00000257430.9:c.5010T>C MANE Select	ENSP00000257430.4:p.Ala1670=
ENST00000257430.8:c.5010T>C	ENSP00000257430.4:p.Ala1670=
ENST00000508376.6:c.5010T>C	ENSP00000427089.2:p.Ala1670=
ENST00000508624.5:c.*4332T>C	ENSP00000424265.1:n.*4332T>C
ENST00000520401.1:c.230+11632T>C
NM_000038.5:c.5010T>C	NP_000029.2:p.Ala1670=
NM_001127510.2:c.5010T>C	NP_001120982.1:p.Ala1670=
NM_001127511.2:c.4956T>C	NP_001120983.2:p.Ala1652=
NM_001354895.1:c.5010T>C	NP_001341824.1:p.Ala1670=
NM_001354896.1:c.5064T>C	NP_001341825.1:p.Ala1688=
NM_001354897.1:c.5040T>C	NP_001341826.1:p.Ala1680=
NM_001354898.1:c.4935T>C	NP_001341827.1:p.Ala1645=
NM_001354899.1:c.4926T>C	NP_001341828.1:p.Ala1642=
NM_001354900.1:c.4887T>C	NP_001341829.1:p.Ala1629=
NM_001354901.1:c.4833T>C	NP_001341830.1:p.Ala1611=
NM_001354902.1:c.4737T>C	NP_001341831.1:p.Ala1579=
NM_001354903.1:c.4707T>C	NP_001341832.1:p.Ala1569=
NM_001354904.1:c.4632T>C	NP_001341833.1:p.Ala1544=
NM_001354905.1:c.4530T>C	NP_001341834.1:p.Ala1510=
NM_001354906.1:c.4161T>C	NP_001341835.1:p.Ala1387=
NM_000038.6:c.5010T>C MANE Select	NP_000029.2:p.Ala1670=
NM_001127510.3:c.5010T>C	NP_001120982.1:p.Ala1670=
NM_001127511.3:c.4956T>C	NP_001120983.2:p.Ala1652=
NM_001354895.2:c.5010T>C	NP_001341824.1:p.Ala1670=
NM_001354896.2:c.5064T>C	NP_001341825.1:p.Ala1688=
NM_001354897.2:c.5040T>C	NP_001341826.1:p.Ala1680=
NM_001354898.2:c.4935T>C	NP_001341827.1:p.Ala1645=
NM_001354899.2:c.4926T>C	NP_001341828.1:p.Ala1642=
NM_001354900.2:c.4887T>C	NP_001341829.1:p.Ala1629=
NM_001354901.2:c.4833T>C	NP_001341830.1:p.Ala1611=
NM_001354902.2:c.4737T>C	NP_001341831.1:p.Ala1579=
NM_001354903.2:c.4707T>C	NP_001341832.1:p.Ala1569=
NM_001354904.2:c.4632T>C	NP_001341833.1:p.Ala1544=
NM_001354905.2:c.4530T>C	NP_001341834.1:p.Ala1510=
NM_001354906.2:c.4161T>C	NP_001341835.1:p.Ala1387=