Canonical Allele Identifier: CA16023345

Gene: APC

Linked Data

• ClinVar Variation Id: 419800
• ClinVar RCV Id: RCV000485442 ; RCV003335355 ; RCV003743739
• dbSNP Id: rs1064794114
• MyVariant Identifiers: chr5:g.112151288A>T (hg19) ; chr5:g.112815591A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112815591A>T , CM000667.2:g.112815591A>T	GRCh38
NC_000005.9:g.112151288A>T , CM000667.1:g.112151288A>T	GRCh37
NC_000005.8:g.112179187A>T	NCBI36
NG_008481.4:g.128071A>T , LRG_130:g.128071A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.931A>T	ENSP00000484935.2:p.Lys311Ter
ENST00000504915.3:c.931A>T	ENSP00000473355.2:p.Lys311Ter
ENST00000505084.2:n.987A>T
ENST00000505350.2:c.*937A>T	ENSP00000481752.1:n.*937A>T
ENST00000507379.6:c.877A>T	ENSP00000423224.2:p.Lys293Ter
ENST00000509732.6:c.931A>T	ENSP00000426541.2:p.Lys311Ter
ENST00000512211.7:c.931A>T	ENSP00000423828.3:p.Lys311Ter
ENST00000257430.9:c.931A>T MANE Select	ENSP00000257430.4:p.Lys311Ter
ENST00000257430.8:c.931A>T	ENSP00000257430.4:p.Lys311Ter
ENST00000507379.5:c.877A>T	ENSP00000423224.1:p.Lys293Ter
ENST00000508376.6:c.931A>T	ENSP00000427089.2:p.Lys311Ter
ENST00000508624.5:c.*253A>T	ENSP00000424265.1:n.*253A>T
ENST00000512211.6:c.931A>T	ENSP00000423828.2:p.Lys311Ter
NM_000038.5:c.931A>T	NP_000029.2:p.Lys311Ter
NM_001127510.2:c.931A>T	NP_001120982.1:p.Lys311Ter
NM_001127511.2:c.877A>T	NP_001120983.2:p.Lys293Ter
NM_001354895.1:c.931A>T	NP_001341824.1:p.Lys311Ter
NM_001354896.1:c.931A>T	NP_001341825.1:p.Lys311Ter
NM_001354897.1:c.961A>T	NP_001341826.1:p.Lys321Ter
NM_001354898.1:c.856A>T	NP_001341827.1:p.Lys286Ter
NM_001354899.1:c.847A>T	NP_001341828.1:p.Lys283Ter
NM_001354900.1:c.754A>T	NP_001341829.1:p.Lys252Ter
NM_001354901.1:c.754A>T	NP_001341830.1:p.Lys252Ter
NM_001354902.1:c.961A>T	NP_001341831.1:p.Lys321Ter
NM_001354903.1:c.931A>T	NP_001341832.1:p.Lys311Ter
NM_001354904.1:c.856A>T	NP_001341833.1:p.Lys286Ter
NM_001354905.1:c.754A>T	NP_001341834.1:p.Lys252Ter
NM_001354906.1:c.82A>T	NP_001341835.1:p.Lys28Ter
NM_000038.6:c.931A>T MANE Select	NP_000029.2:p.Lys311Ter
NM_001127510.3:c.931A>T	NP_001120982.1:p.Lys311Ter
NM_001127511.3:c.877A>T	NP_001120983.2:p.Lys293Ter
NM_001354895.2:c.931A>T	NP_001341824.1:p.Lys311Ter
NM_001354896.2:c.931A>T	NP_001341825.1:p.Lys311Ter
NM_001354897.2:c.961A>T	NP_001341826.1:p.Lys321Ter
NM_001354898.2:c.856A>T	NP_001341827.1:p.Lys286Ter
NM_001354899.2:c.847A>T	NP_001341828.1:p.Lys283Ter
NM_001354900.2:c.754A>T	NP_001341829.1:p.Lys252Ter
NM_001354901.2:c.754A>T	NP_001341830.1:p.Lys252Ter
NM_001354902.2:c.961A>T	NP_001341831.1:p.Lys321Ter
NM_001354903.2:c.931A>T	NP_001341832.1:p.Lys311Ter
NM_001354904.2:c.856A>T	NP_001341833.1:p.Lys286Ter
NM_001354905.2:c.754A>T	NP_001341834.1:p.Lys252Ter
NM_001354906.2:c.82A>T	NP_001341835.1:p.Lys28Ter