Canonical Allele Identifier: CA402508928

Gene: DYM

Linked Data

• ClinVar Variation Id: 2105523
• ClinVar RCV Id: RCV003023493
• MyVariant Identifiers: chr18:g.46690056T>A (hg19) ; chr18:g.49163686T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49163686T>A , CM000680.2:g.49163686T>A	GRCh38
NC_000018.9:g.46690056T>A , CM000680.1:g.46690056T>A	GRCh37
NC_000018.8:g.44944054T>A	NCBI36
NG_009239.1:g.302024A>T
NG_009239.2:g.302048A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675505.1:c.1727A>T MANE Select	ENSP00000501694.1:p.Tyr576Phe
ENST00000269445.10:c.1562A>T	ENSP00000269445.6:p.Tyr521Phe
ENST00000442713.6:c.992A>T	ENSP00000395942.2:p.Tyr331Phe
NM_017653.3:c.1562A>T	NP_060123.3:p.Tyr521Phe
XM_006722488.2:c.1562A>T	XP_006722551.1:p.Tyr521Phe
XM_006722490.2:c.1562A>T	XP_006722553.1:p.Tyr521Phe
XM_011526036.1:c.1562A>T	XP_011524338.1:p.Tyr521Phe
XM_011526037.1:c.1559A>T	XP_011524339.1:p.Tyr520Phe
XM_011526038.1:c.1559A>T	XP_011524340.1:p.Tyr520Phe
XM_011526039.1:c.1562A>T	XP_011524341.1:p.Tyr521Phe
XM_011526040.1:c.1394A>T	XP_011524342.1:p.Tyr465Phe
XM_011526041.1:c.1562A>T	XP_011524343.1:p.Tyr521Phe
XM_011526042.1:c.1562A>T	XP_011524344.1:p.Tyr521Phe
XM_011526043.1:c.1562A>T	XP_011524345.1:p.Tyr521Phe
NM_001353210.1:c.1559A>T	NP_001340139.1:p.Tyr520Phe
NM_001353211.1:c.1559A>T	NP_001340140.1:p.Tyr520Phe
NM_001353212.1:c.1724A>T	NP_001340141.1:p.Tyr575Phe
NM_001353213.1:c.1724A>T	NP_001340142.1:p.Tyr575Phe
NM_001353214.1:c.1727A>T	NP_001340143.1:p.Tyr576Phe
NM_001353215.1:c.1727A>T	NP_001340144.1:p.Tyr576Phe
NM_001353216.1:c.1562A>T	NP_001340145.1:p.Tyr521Phe
NM_017653.4:c.1562A>T	NP_060123.3:p.Tyr521Phe
XM_006722488.3:c.1562A>T	XP_006722551.1:p.Tyr521Phe
XM_011526036.2:c.1562A>T	XP_011524338.1:p.Tyr521Phe
XM_011526038.2:c.1559A>T	XP_011524340.1:p.Tyr520Phe
XM_011526039.2:c.1562A>T	XP_011524341.1:p.Tyr521Phe
XM_011526041.2:c.1562A>T	XP_011524343.1:p.Tyr521Phe
XM_011526042.2:c.1562A>T	XP_011524344.1:p.Tyr521Phe
XM_017025795.1:c.1556A>T	XP_016881284.1:p.Tyr519Phe
XM_017025796.2:c.1382A>T	XP_016881285.1:p.Tyr461Phe
XM_017025800.2:c.1559A>T	XP_016881289.1:p.Tyr520Phe
XM_017025801.1:c.1556A>T	XP_016881290.1:p.Tyr519Phe
XR_002958177.1:n.1919A>T
NM_001353210.3:c.1559A>T	NP_001340139.1:p.Tyr520Phe
NM_001353211.3:c.1559A>T	NP_001340140.1:p.Tyr520Phe
NM_001353212.3:c.1724A>T	NP_001340141.1:p.Tyr575Phe
NM_001353213.3:c.1724A>T	NP_001340142.1:p.Tyr575Phe
NM_001353214.3:c.1727A>T MANE Select	NP_001340143.1:p.Tyr576Phe
NM_001353215.3:c.1727A>T	NP_001340144.1:p.Tyr576Phe
NM_001353216.3:c.1562A>T	NP_001340145.1:p.Tyr521Phe
NM_001374428.1:c.1727A>T	NP_001361357.1:p.Tyr576Phe
NM_001374429.1:c.1721A>T	NP_001361358.1:p.Tyr574Phe
NM_001374430.1:c.1727A>T	NP_001361359.1:p.Tyr576Phe
NM_001374431.1:c.1727A>T	NP_001361360.1:p.Tyr576Phe
NM_001374432.1:c.1601A>T	NP_001361361.1:p.Tyr534Phe
NM_001374433.1:c.1562A>T	NP_001361362.1:p.Tyr521Phe
NM_001374434.1:c.1562A>T	NP_001361363.1:p.Tyr521Phe
NM_001374435.1:c.1559A>T	NP_001361364.1:p.Tyr520Phe
NM_001374436.1:c.1436A>T	NP_001361365.1:p.Tyr479Phe
NM_001374437.1:c.1379A>T	NP_001361366.1:p.Tyr460Phe
NM_001374438.1:c.1559A>T	NP_001361367.1:p.Tyr520Phe
NM_001374439.1:c.1556A>T	NP_001361368.1:p.Tyr519Phe
NM_001374440.1:c.1334A>T	NP_001361369.1:p.Tyr445Phe
NM_001374441.1:c.1157A>T	NP_001361370.1:p.Tyr386Phe
NM_001374442.1:c.992A>T	NP_001361371.1:p.Tyr331Phe
NM_001374443.1:c.989A>T	NP_001361372.1:p.Tyr330Phe
NM_001374444.1:c.992A>T	NP_001361373.1:p.Tyr331Phe
NM_017653.6:c.1562A>T	NP_060123.3:p.Tyr521Phe