Canonical Allele Identifier: CA16028138

Gene: APC

Linked Data

• dbSNP Id: rs2149884470
• MyVariant Identifiers: chr5:g.112174397T>G (hg19) ; chr5:g.112838700T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838700T>G , CM000667.2:g.112838700T>G	GRCh38
NC_000005.9:g.112174397T>G , CM000667.1:g.112174397T>G	GRCh37
NC_000005.8:g.112202296T>G	NCBI36
NG_008481.4:g.151180T>G , LRG_130:g.151180T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2771T>G	ENSP00000484935.2:n.2771T>G
ENST00000504915.3:c.3160T>G	ENSP00000473355.2:p.Leu1054Val
ENST00000505350.2:c.*3112T>G	ENSP00000481752.1:n.*3112T>G
ENST00000507379.6:c.3052T>G	ENSP00000423224.2:p.Leu1018Val
ENST00000509732.6:c.3106T>G	ENSP00000426541.2:p.Leu1036Val
ENST00000512211.7:c.3106T>G	ENSP00000423828.3:p.Leu1036Val
ENST00000257430.9:c.3106T>G MANE Select	ENSP00000257430.4:p.Leu1036Val
ENST00000257430.8:c.3106T>G	ENSP00000257430.4:p.Leu1036Val
ENST00000502371.2:c.1459T>G
ENST00000507379.5:c.3052T>G	ENSP00000423224.1:p.Leu1018Val
ENST00000508376.6:c.3106T>G	ENSP00000427089.2:p.Leu1036Val
ENST00000508624.5:c.*2428T>G	ENSP00000424265.1:n.*2428T>G
ENST00000512211.6:c.3106T>G	ENSP00000423828.2:p.Leu1036Val
ENST00000520401.1:c.230+9728T>G
NM_000038.5:c.3106T>G	NP_000029.2:p.Leu1036Val
NM_001127510.2:c.3106T>G	NP_001120982.1:p.Leu1036Val
NM_001127511.2:c.3052T>G	NP_001120983.2:p.Leu1018Val
NM_001354895.1:c.3106T>G	NP_001341824.1:p.Leu1036Val
NM_001354896.1:c.3160T>G	NP_001341825.1:p.Leu1054Val
NM_001354897.1:c.3136T>G	NP_001341826.1:p.Leu1046Val
NM_001354898.1:c.3031T>G	NP_001341827.1:p.Leu1011Val
NM_001354899.1:c.3022T>G	NP_001341828.1:p.Leu1008Val
NM_001354900.1:c.2983T>G	NP_001341829.1:p.Leu995Val
NM_001354901.1:c.2929T>G	NP_001341830.1:p.Leu977Val
NM_001354902.1:c.2833T>G	NP_001341831.1:p.Leu945Val
NM_001354903.1:c.2803T>G	NP_001341832.1:p.Leu935Val
NM_001354904.1:c.2728T>G	NP_001341833.1:p.Leu910Val
NM_001354905.1:c.2626T>G	NP_001341834.1:p.Leu876Val
NM_001354906.1:c.2257T>G	NP_001341835.1:p.Leu753Val
NM_000038.6:c.3106T>G MANE Select	NP_000029.2:p.Leu1036Val
NM_001127510.3:c.3106T>G	NP_001120982.1:p.Leu1036Val
NM_001127511.3:c.3052T>G	NP_001120983.2:p.Leu1018Val
NM_001354895.2:c.3106T>G	NP_001341824.1:p.Leu1036Val
NM_001354896.2:c.3160T>G	NP_001341825.1:p.Leu1054Val
NM_001354897.2:c.3136T>G	NP_001341826.1:p.Leu1046Val
NM_001354898.2:c.3031T>G	NP_001341827.1:p.Leu1011Val
NM_001354899.2:c.3022T>G	NP_001341828.1:p.Leu1008Val
NM_001354900.2:c.2983T>G	NP_001341829.1:p.Leu995Val
NM_001354901.2:c.2929T>G	NP_001341830.1:p.Leu977Val
NM_001354902.2:c.2833T>G	NP_001341831.1:p.Leu945Val
NM_001354903.2:c.2803T>G	NP_001341832.1:p.Leu935Val
NM_001354904.2:c.2728T>G	NP_001341833.1:p.Leu910Val
NM_001354905.2:c.2626T>G	NP_001341834.1:p.Leu876Val
NM_001354906.2:c.2257T>G	NP_001341835.1:p.Leu753Val