Canonical Allele Identifier: CA16032293

Gene: APC

Linked Data

• dbSNP Id: rs2149929701
• MyVariant Identifiers: chr5:g.112176299G>T (hg19) ; chr5:g.112840602G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840602G>T , CM000667.2:g.112840602G>T	GRCh38
NC_000005.9:g.112176299G>T , CM000667.1:g.112176299G>T	GRCh37
NC_000005.8:g.112204198G>T	NCBI36
NG_008481.4:g.153082G>T , LRG_130:g.153082G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5062G>T	ENSP00000473355.2:p.Ala1688Ser
ENST00000505350.2:c.*5014G>T	ENSP00000481752.1:n.*5014G>T
ENST00000507379.6:c.4954G>T	ENSP00000423224.2:p.Ala1652Ser
ENST00000509732.6:c.5008G>T	ENSP00000426541.2:p.Ala1670Ser
ENST00000512211.7:c.5008G>T	ENSP00000423828.3:p.Ala1670Ser
ENST00000257430.9:c.5008G>T MANE Select	ENSP00000257430.4:p.Ala1670Ser
ENST00000257430.8:c.5008G>T	ENSP00000257430.4:p.Ala1670Ser
ENST00000508376.6:c.5008G>T	ENSP00000427089.2:p.Ala1670Ser
ENST00000508624.5:c.*4330G>T	ENSP00000424265.1:n.*4330G>T
ENST00000520401.1:c.230+11630G>T
NM_000038.5:c.5008G>T	NP_000029.2:p.Ala1670Ser
NM_001127510.2:c.5008G>T	NP_001120982.1:p.Ala1670Ser
NM_001127511.2:c.4954G>T	NP_001120983.2:p.Ala1652Ser
NM_001354895.1:c.5008G>T	NP_001341824.1:p.Ala1670Ser
NM_001354896.1:c.5062G>T	NP_001341825.1:p.Ala1688Ser
NM_001354897.1:c.5038G>T	NP_001341826.1:p.Ala1680Ser
NM_001354898.1:c.4933G>T	NP_001341827.1:p.Ala1645Ser
NM_001354899.1:c.4924G>T	NP_001341828.1:p.Ala1642Ser
NM_001354900.1:c.4885G>T	NP_001341829.1:p.Ala1629Ser
NM_001354901.1:c.4831G>T	NP_001341830.1:p.Ala1611Ser
NM_001354902.1:c.4735G>T	NP_001341831.1:p.Ala1579Ser
NM_001354903.1:c.4705G>T	NP_001341832.1:p.Ala1569Ser
NM_001354904.1:c.4630G>T	NP_001341833.1:p.Ala1544Ser
NM_001354905.1:c.4528G>T	NP_001341834.1:p.Ala1510Ser
NM_001354906.1:c.4159G>T	NP_001341835.1:p.Ala1387Ser
NM_000038.6:c.5008G>T MANE Select	NP_000029.2:p.Ala1670Ser
NM_001127510.3:c.5008G>T	NP_001120982.1:p.Ala1670Ser
NM_001127511.3:c.4954G>T	NP_001120983.2:p.Ala1652Ser
NM_001354895.2:c.5008G>T	NP_001341824.1:p.Ala1670Ser
NM_001354896.2:c.5062G>T	NP_001341825.1:p.Ala1688Ser
NM_001354897.2:c.5038G>T	NP_001341826.1:p.Ala1680Ser
NM_001354898.2:c.4933G>T	NP_001341827.1:p.Ala1645Ser
NM_001354899.2:c.4924G>T	NP_001341828.1:p.Ala1642Ser
NM_001354900.2:c.4885G>T	NP_001341829.1:p.Ala1629Ser
NM_001354901.2:c.4831G>T	NP_001341830.1:p.Ala1611Ser
NM_001354902.2:c.4735G>T	NP_001341831.1:p.Ala1579Ser
NM_001354903.2:c.4705G>T	NP_001341832.1:p.Ala1569Ser
NM_001354904.2:c.4630G>T	NP_001341833.1:p.Ala1544Ser
NM_001354905.2:c.4528G>T	NP_001341834.1:p.Ala1510Ser
NM_001354906.2:c.4159G>T	NP_001341835.1:p.Ala1387Ser