Canonical Allele Identifier: CA417879877

Gene: MUTYH

Linked Data

• dbSNP Id: rs1272703319
• gnomAD v2: 1-45797182-G-A
• MyVariant Identifiers: chr1:g.45797182G>A (hg19) ; chr1:g.45331510G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45331510G>A , CM000663.2:g.45331510G>A	GRCh38
NC_000001.10:g.45797182G>A , CM000663.1:g.45797182G>A	GRCh37
NC_000001.9:g.45569769G>A	NCBI36
NG_008189.1:g.13961C>T , LRG_220:g.13961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.765C>T	ENSP00000410263.2:p.Pro255=
ENST00000435155.2:c.1182C>T	ENSP00000403655.2:p.Pro394=
ENST00000467459.6:c.*11C>T	ENSP00000435889.2:n.*11C>T
ENST00000483127.2:c.1167C>T	ENSP00000436469.2:p.Pro389=
ENST00000485271.6:c.1149C>T	ENSP00000431264.2:p.Pro383=
ENST00000529892.6:c.1002C>T	ENSP00000432528.2:p.Pro334=
ENST00000533178.6:c.*478C>T	ENSP00000436430.2:n.*478C>T
ENST00000672314.2:c.1149C>T	ENSP00000500828.2:p.Pro383=
ENST00000710952.2:c.1233C>T MANE Plus Clinical	ENSP00000518552.2:p.Pro411=
ENST00000672818.3:c.1224C>T	ENSP00000500891.1:p.Pro408=
ENST00000456914.7:c.1149C>T MANE Select	ENSP00000407590.2:p.Pro383=
ENST00000671898.1:c.1737C>T	ENSP00000499896.1:p.Pro579=
ENST00000672011.1:c.*478C>T	ENSP00000500418.1:n.*478C>T
ENST00000672314.1:c.1149C>T	ENSP00000500828.1:p.Pro383=
ENST00000672593.1:c.*1375C>T	ENSP00000500455.1:n.*1375C>T
ENST00000672818.2:c.1224C>T	ENSP00000500891.1:p.Pro408=
ENST00000673134.1:c.*846C>T	ENSP00000500526.1:n.*846C>T
ENST00000354383.10:c.1152C>T	ENSP00000346354.6:p.Pro384=
ENST00000355498.6:c.1149C>T	ENSP00000347685.2:p.Pro383=
ENST00000372098.7:c.1224C>T	ENSP00000361170.3:p.Pro408=
ENST00000372104.5:c.1149C>T	ENSP00000361176.1:p.Pro383=
ENST00000372110.7:c.1194C>T	ENSP00000361182.3:p.Pro398=
ENST00000372115.7:c.1191C>T	ENSP00000361187.3:p.Pro397=
ENST00000448481.5:c.1182C>T	ENSP00000409718.1:p.Pro394=
ENST00000450313.5:c.1233C>T	ENSP00000408176.1:p.Pro411=
ENST00000456914.6:c.1149C>T	ENSP00000407590.2:p.Pro383=
ENST00000467459.5:c.566C>T	ENSP00000435889.1:n.566C>T
ENST00000475516.5:c.*962C>T	ENSP00000433843.1:n.*962C>T
ENST00000481571.5:c.*962C>T	ENSP00000436597.1:n.*962C>T
ENST00000482094.5:n.470C>T
ENST00000488731.6:c.234C>T	ENSP00000432330.1:p.Pro78=
ENST00000528013.6:c.1191C>T	ENSP00000433130.2:p.Pro397=
ENST00000529892.5:c.224C>T
ENST00000529984.5:c.234C>T	ENSP00000437093.1:p.Pro78=
ENST00000531105.5:c.116-2073C>T	ENSP00000431292.1:n.116-2073C>T
ENST00000533178.5:c.778C>T	ENSP00000436430.1:n.778C>T
NM_001048171.1:c.1191C>T	NP_001041636.1:p.Pro397=
NM_001048172.1:c.1152C>T	NP_001041637.1:p.Pro384=
NM_001048173.1:c.1149C>T	NP_001041638.1:p.Pro383=
NM_001048174.1:c.1149C>T	NP_001041639.1:p.Pro383=
NM_001128425.1:c.1233C>T , LRG_220t1:c.1233C>T	NP_001121897.1:p.Pro411=
NM_001293190.1:c.1194C>T	NP_001280119.1:p.Pro398=
NM_001293191.1:c.1182C>T	NP_001280120.1:p.Pro394=
NM_001293192.1:c.873C>T	NP_001280121.1:p.Pro291=
NM_001293195.1:c.1149C>T	NP_001280124.1:p.Pro383=
NM_001293196.1:c.873C>T	NP_001280125.1:p.Pro291=
NM_012222.2:c.1224C>T	NP_036354.1:p.Pro408=
XM_011541497.1:c.1209C>T	XP_011539799.1:p.Pro403=
XM_011541498.1:c.1191C>T	XP_011539800.1:p.Pro397=
XM_011541499.1:c.1191C>T	XP_011539801.1:p.Pro397=
XM_011541500.1:c.1191C>T	XP_011539802.1:p.Pro397=
XM_011541501.1:c.1191C>T	XP_011539803.1:p.Pro397=
XM_011541502.1:c.1191C>T	XP_011539804.1:p.Pro397=
XM_011541503.1:c.1191C>T	XP_011539805.1:p.Pro397=
XM_011541504.1:c.1182C>T	XP_011539806.1:p.Pro394=
XM_011541505.1:c.771C>T	XP_011539807.1:p.Pro257=
XM_011541506.1:c.771C>T	XP_011539808.1:p.Pro257=
XM_011541507.1:c.762C>T	XP_011539809.1:p.Pro254=
XM_011541508.1:c.777C>T	XP_011539810.1:p.Pro259=
XR_946658.1:n.1280C>T
NM_001350650.1:c.804C>T	NP_001337579.1:p.Pro268=
NM_001350651.1:c.804C>T	NP_001337580.1:p.Pro268=
NR_146882.1:n.1407C>T
NR_146883.1:n.1221C>T
XM_011541497.3:c.1209C>T	XP_011539799.1:p.Pro403=
XM_011541500.3:c.1191C>T	XP_011539802.1:p.Pro397=
XM_011541501.2:c.1191C>T	XP_011539803.1:p.Pro397=
XM_011541502.2:c.1191C>T	XP_011539804.1:p.Pro397=
XM_011541503.2:c.1191C>T	XP_011539805.1:p.Pro397=
XM_011541504.2:c.1182C>T	XP_011539806.1:p.Pro394=
XM_011541505.2:c.771C>T	XP_011539807.1:p.Pro257=
XM_011541506.2:c.771C>T	XP_011539808.1:p.Pro257=
XM_017001331.1:c.1191C>T	XP_016856820.1:p.Pro397=
XM_017001332.1:c.1191C>T	XP_016856821.1:p.Pro397=
XM_017001333.1:c.1191C>T	XP_016856822.1:p.Pro397=
XM_017001334.1:c.1152C>T	XP_016856823.1:p.Pro384=
XM_017001335.1:c.873C>T	XP_016856824.1:p.Pro291=
XM_017001336.1:c.804C>T	XP_016856825.1:p.Pro268=
XM_017001337.1:c.804C>T	XP_016856826.1:p.Pro268=
XM_024447244.1:c.804C>T	XP_024303012.1:p.Pro268=
XM_024447245.1:c.804C>T	XP_024303013.1:p.Pro268=
XM_024447248.1:c.762C>T	XP_024303016.1:p.Pro254=
XM_024447249.1:c.633C>T	XP_024303017.1:p.Pro211=
XM_024447250.1:c.633C>T	XP_024303018.1:p.Pro211=
XM_024447251.1:c.633C>T	XP_024303019.1:p.Pro211=
XR_001737190.1:n.1194C>T
XR_001737192.1:n.1006C>T
XR_002956643.1:n.1186C>T
XR_002956644.1:n.1721C>T
XR_946658.2:n.1294C>T
NM_001048171.2:c.1149C>T	NP_001041636.2:p.Pro383=
NM_001128425.2:c.1233C>T MANE Plus Clinical	NP_001121897.1:p.Pro411=
NM_001048172.2:c.1152C>T	NP_001041637.1:p.Pro384=
NM_001048173.2:c.1149C>T	NP_001041638.1:p.Pro383=
NM_001048174.2:c.1149C>T MANE Select	NP_001041639.1:p.Pro383=
NM_001293190.2:c.1194C>T	NP_001280119.1:p.Pro398=
NM_001293191.2:c.1182C>T	NP_001280120.1:p.Pro394=
NM_001293192.2:c.873C>T	NP_001280121.1:p.Pro291=
NM_001293195.2:c.1149C>T	NP_001280124.1:p.Pro383=
NM_001293196.2:c.873C>T	NP_001280125.1:p.Pro291=
NM_001350650.2:c.804C>T	NP_001337579.1:p.Pro268=
NM_001350651.2:c.804C>T	NP_001337580.1:p.Pro268=
NM_012222.3:c.1224C>T	NP_036354.1:p.Pro408=
NR_146882.2:n.1377C>T
NR_146883.2:n.1226C>T