Canonical Allele Identifier: CA417702083
Gene: MUTYH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.45796923T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45331251T>G , CM000663.2:g.45331251T>G GRCh38
NC_000001.10:g.45796923T>G , CM000663.1:g.45796923T>G GRCh37
NC_000001.9:g.45569510T>G NCBI36
NG_008189.1:g.14220A>C , LRG_220:g.14220A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000672818.3:c.1398A>C ENSP00000500891.1:p.Val466=
ENST00000456914.7:c.1323A>C MANE Select ENSP00000407590.2:p.Val441=
ENST00000671898.1:c.1911A>C ENSP00000499896.1:p.Val637=
ENST00000672011.1:c.*652A>C ENSP00000500418.1:n.*652A>C
ENST00000672314.1:c.1323A>C ENSP00000500828.1:p.Val441=
ENST00000672818.2:c.1398A>C ENSP00000500891.1:p.Val466=
ENST00000673134.1:c.*1020A>C ENSP00000500526.1:n.*1020A>C
ENST00000354383.10:c.1326A>C ENSP00000346354.6:p.Val442=
ENST00000355498.6:c.1323A>C ENSP00000347685.2:p.Val441=
ENST00000372098.7:c.1398A>C ENSP00000361170.3:p.Val466=
ENST00000372104.5:c.1323A>C ENSP00000361176.1:p.Val441=
ENST00000372110.7:c.1368A>C ENSP00000361182.3:p.Val456=
ENST00000372115.7:c.1365A>C ENSP00000361187.3:p.Val455=
ENST00000448481.5:c.1356A>C ENSP00000409718.1:p.Val452=
ENST00000450313.5:c.1407A>C ENSP00000408176.1:p.Val469=
ENST00000456914.6:c.1323A>C ENSP00000407590.2:p.Val441=
ENST00000467459.5:n.740A>C ENSP00000435889.1:n.740A>C
ENST00000475516.5:c.*1136A>C ENSP00000433843.1:n.*1136A>C
ENST00000481571.5:c.*1136A>C ENSP00000436597.1:n.*1136A>C
ENST00000482094.5:n.644A>C
ENST00000485271.5:n.20A>C
ENST00000488731.6:c.408A>C ENSP00000432330.1:p.Val136=
ENST00000528013.6:c.1365A>C ENSP00000433130.2:p.Val455=
ENST00000529892.5:n.398A>C
ENST00000529984.5:c.408A>C ENSP00000437093.1:p.Val136=
ENST00000531105.5:c.116-1814A>C ENSP00000431292.1:n.116-1814A>C
ENST00000533178.5:n.952A>C ENSP00000436430.1:n.952A>C
NM_001048171.1:c.1365A>C NP_001041636.1:p.Val455=
NM_001048172.1:c.1326A>C NP_001041637.1:p.Val442=
NM_001048173.1:c.1323A>C NP_001041638.1:p.Val441=
NM_001048174.1:c.1323A>C NP_001041639.1:p.Val441=
NM_001128425.1:c.1407A>C , LRG_220t1:c.1407A>C NP_001121897.1:p.Val469=
NM_001293190.1:c.1368A>C NP_001280119.1:p.Val456=
NM_001293191.1:c.1356A>C NP_001280120.1:p.Val452=
NM_001293192.1:c.1047A>C NP_001280121.1:p.Val349=
NM_001293195.1:c.1323A>C NP_001280124.1:p.Val441=
NM_001293196.1:c.1047A>C NP_001280125.1:p.Val349=
NM_012222.2:c.1398A>C NP_036354.1:p.Val466=
XM_011541497.1:c.1383A>C XP_011539799.1:p.Val461=
XM_011541498.1:c.1365A>C XP_011539800.1:p.Val455=
XM_011541499.1:c.1365A>C XP_011539801.1:p.Val455=
XM_011541500.1:c.1365A>C XP_011539802.1:p.Val455=
XM_011541501.1:c.1365A>C XP_011539803.1:p.Val455=
XM_011541502.1:c.1365A>C XP_011539804.1:p.Val455=
XM_011541503.1:c.1365A>C XP_011539805.1:p.Val455=
XM_011541504.1:c.1356A>C XP_011539806.1:p.Val452=
XM_011541505.1:c.945A>C XP_011539807.1:p.Val315=
XM_011541506.1:c.945A>C XP_011539808.1:p.Val315=
XM_011541507.1:c.936A>C XP_011539809.1:p.Val312=
XM_011541508.1:c.951A>C XP_011539810.1:p.Val317=
XR_946658.1:n.1454A>C
NM_001350650.1:c.978A>C NP_001337579.1:p.Val326=
NM_001350651.1:c.978A>C NP_001337580.1:p.Val326=
NR_146882.1:n.1581A>C
NR_146883.1:n.1395A>C
XM_011541497.3:c.1383A>C XP_011539799.1:p.Val461=
XM_011541500.3:c.1365A>C XP_011539802.1:p.Val455=
XM_011541501.2:c.1365A>C XP_011539803.1:p.Val455=
XM_011541502.2:c.1365A>C XP_011539804.1:p.Val455=
XM_011541503.2:c.1365A>C XP_011539805.1:p.Val455=
XM_011541504.2:c.1356A>C XP_011539806.1:p.Val452=
XM_011541505.2:c.945A>C XP_011539807.1:p.Val315=
XM_011541506.2:c.945A>C XP_011539808.1:p.Val315=
XM_017001331.1:c.1365A>C XP_016856820.1:p.Val455=
XM_017001332.1:c.1365A>C XP_016856821.1:p.Val455=
XM_017001333.1:c.1365A>C XP_016856822.1:p.Val455=
XM_017001334.1:c.1326A>C XP_016856823.1:p.Val442=
XM_017001335.1:c.1047A>C XP_016856824.1:p.Val349=
XM_017001336.1:c.978A>C XP_016856825.1:p.Val326=
XM_017001337.1:c.978A>C XP_016856826.1:p.Val326=
XM_024447244.1:c.978A>C XP_024303012.1:p.Val326=
XM_024447245.1:c.978A>C XP_024303013.1:p.Val326=
XM_024447248.1:c.936A>C XP_024303016.1:p.Val312=
XM_024447249.1:c.807A>C XP_024303017.1:p.Val269=
XM_024447250.1:c.807A>C XP_024303018.1:p.Val269=
XM_024447251.1:c.807A>C XP_024303019.1:p.Val269=
XR_001737190.1:n.1368A>C
XR_001737192.1:n.1180A>C
XR_002956643.1:n.1360A>C
XR_002956644.1:n.1895A>C
XR_946658.2:n.1468A>C
NM_001048171.2:c.1323A>C NP_001041636.2:p.Val441=
NM_001128425.2:c.1407A>C NP_001121897.1:p.Val469=
NM_001048172.2:c.1326A>C NP_001041637.1:p.Val442=
NM_001048173.2:c.1323A>C NP_001041638.1:p.Val441=
NM_001048174.2:c.1323A>C MANE Select NP_001041639.1:p.Val441=
NM_001293190.2:c.1368A>C NP_001280119.1:p.Val456=
NM_001293191.2:c.1356A>C NP_001280120.1:p.Val452=
NM_001293192.2:c.1047A>C NP_001280121.1:p.Val349=
NM_001293195.2:c.1323A>C NP_001280124.1:p.Val441=
NM_001293196.2:c.1047A>C NP_001280125.1:p.Val349=
NM_001350650.2:c.978A>C NP_001337579.1:p.Val326=
NM_001350651.2:c.978A>C NP_001337580.1:p.Val326=
NM_012222.3:c.1398A>C NP_036354.1:p.Val466=
NR_146882.2:n.1551A>C
NR_146883.2:n.1400A>C