Canonical Allele Identifier: CA16028745

Gene: APC

Linked Data

• dbSNP Id: rs2149890781
• MyVariant Identifiers: chr5:g.112174673T>G (hg19) ; chr5:g.112838976T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838976T>G , CM000667.2:g.112838976T>G	GRCh38
NC_000005.9:g.112174673T>G , CM000667.1:g.112174673T>G	GRCh37
NC_000005.8:g.112202572T>G	NCBI36
NG_008481.4:g.151456T>G , LRG_130:g.151456T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3047T>G	ENSP00000484935.2:n.3047T>G
ENST00000504915.3:c.3436T>G	ENSP00000473355.2:p.Ser1146Ala
ENST00000505350.2:c.*3388T>G	ENSP00000481752.1:n.*3388T>G
ENST00000507379.6:c.3328T>G	ENSP00000423224.2:p.Ser1110Ala
ENST00000509732.6:c.3382T>G	ENSP00000426541.2:p.Ser1128Ala
ENST00000512211.7:c.3382T>G	ENSP00000423828.3:p.Ser1128Ala
ENST00000257430.9:c.3382T>G MANE Select	ENSP00000257430.4:p.Ser1128Ala
ENST00000257430.8:c.3382T>G	ENSP00000257430.4:p.Ser1128Ala
ENST00000502371.2:c.1735T>G
ENST00000507379.5:c.3328T>G	ENSP00000423224.1:p.Ser1110Ala
ENST00000508376.6:c.3382T>G	ENSP00000427089.2:p.Ser1128Ala
ENST00000508624.5:c.*2704T>G	ENSP00000424265.1:n.*2704T>G
ENST00000512211.6:c.3382T>G	ENSP00000423828.2:p.Ser1128Ala
ENST00000520401.1:c.230+10004T>G
NM_000038.5:c.3382T>G	NP_000029.2:p.Ser1128Ala
NM_001127510.2:c.3382T>G	NP_001120982.1:p.Ser1128Ala
NM_001127511.2:c.3328T>G	NP_001120983.2:p.Ser1110Ala
NM_001354895.1:c.3382T>G	NP_001341824.1:p.Ser1128Ala
NM_001354896.1:c.3436T>G	NP_001341825.1:p.Ser1146Ala
NM_001354897.1:c.3412T>G	NP_001341826.1:p.Ser1138Ala
NM_001354898.1:c.3307T>G	NP_001341827.1:p.Ser1103Ala
NM_001354899.1:c.3298T>G	NP_001341828.1:p.Ser1100Ala
NM_001354900.1:c.3259T>G	NP_001341829.1:p.Ser1087Ala
NM_001354901.1:c.3205T>G	NP_001341830.1:p.Ser1069Ala
NM_001354902.1:c.3109T>G	NP_001341831.1:p.Ser1037Ala
NM_001354903.1:c.3079T>G	NP_001341832.1:p.Ser1027Ala
NM_001354904.1:c.3004T>G	NP_001341833.1:p.Ser1002Ala
NM_001354905.1:c.2902T>G	NP_001341834.1:p.Ser968Ala
NM_001354906.1:c.2533T>G	NP_001341835.1:p.Ser845Ala
NM_000038.6:c.3382T>G MANE Select	NP_000029.2:p.Ser1128Ala
NM_001127510.3:c.3382T>G	NP_001120982.1:p.Ser1128Ala
NM_001127511.3:c.3328T>G	NP_001120983.2:p.Ser1110Ala
NM_001354895.2:c.3382T>G	NP_001341824.1:p.Ser1128Ala
NM_001354896.2:c.3436T>G	NP_001341825.1:p.Ser1146Ala
NM_001354897.2:c.3412T>G	NP_001341826.1:p.Ser1138Ala
NM_001354898.2:c.3307T>G	NP_001341827.1:p.Ser1103Ala
NM_001354899.2:c.3298T>G	NP_001341828.1:p.Ser1100Ala
NM_001354900.2:c.3259T>G	NP_001341829.1:p.Ser1087Ala
NM_001354901.2:c.3205T>G	NP_001341830.1:p.Ser1069Ala
NM_001354902.2:c.3109T>G	NP_001341831.1:p.Ser1037Ala
NM_001354903.2:c.3079T>G	NP_001341832.1:p.Ser1027Ala
NM_001354904.2:c.3004T>G	NP_001341833.1:p.Ser1002Ala
NM_001354905.2:c.2902T>G	NP_001341834.1:p.Ser968Ala
NM_001354906.2:c.2533T>G	NP_001341835.1:p.Ser845Ala