Canonical Allele Identifier: CA402507867

Gene: DYM

Linked Data

• MyVariant Identifiers: chr18:g.46623871A>C (hg19) ; chr18:g.49097501A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49097501A>C , CM000680.2:g.49097501A>C	GRCh38
NC_000018.9:g.46623871A>C , CM000680.1:g.46623871A>C	GRCh37
NC_000018.8:g.44877869A>C	NCBI36
NG_009239.1:g.368209T>G
NG_009239.2:g.368233T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675505.1:c.1926T>G MANE Select	ENSP00000501694.1:p.Phe642Leu
ENST00000269445.10:c.1761T>G	ENSP00000269445.6:p.Phe587Leu
ENST00000442713.6:c.1191T>G	ENSP00000395942.2:p.Phe397Leu
ENST00000583270.1:n.274-3T>G
NM_017653.3:c.1761T>G	NP_060123.3:p.Phe587Leu
XM_006722488.2:c.1761T>G	XP_006722551.1:p.Phe587Leu
XM_006722490.2:c.*54T>G	XP_006722553.1:n.*54T>G
XM_011526036.1:c.1761T>G	XP_011524338.1:p.Phe587Leu
XM_011526037.1:c.1758T>G	XP_011524339.1:p.Phe586Leu
XM_011526038.1:c.1758T>G	XP_011524340.1:p.Phe586Leu
XM_011526039.1:c.1761T>G	XP_011524341.1:p.Phe587Leu
XM_011526040.1:c.1593T>G	XP_011524342.1:p.Phe531Leu
XM_011526041.1:c.1578T>G	XP_011524343.1:p.Phe526Leu
XM_011526042.1:c.1761T>G	XP_011524344.1:p.Phe587Leu
XM_011526043.1:c.*29T>G	XP_011524345.1:n.*29T>G
NM_001353210.1:c.1758T>G	NP_001340139.1:p.Phe586Leu
NM_001353211.1:c.1758T>G	NP_001340140.1:p.Phe586Leu
NM_001353212.1:c.1923T>G	NP_001340141.1:p.Phe641Leu
NM_001353213.1:c.1923T>G	NP_001340142.1:p.Phe641Leu
NM_001353214.1:c.1926T>G	NP_001340143.1:p.Phe642Leu
NM_001353215.1:c.1743T>G	NP_001340144.1:p.Phe581Leu
NM_001353216.1:c.1578T>G	NP_001340145.1:p.Phe526Leu
NM_017653.4:c.1761T>G	NP_060123.3:p.Phe587Leu
XM_006722488.3:c.1761T>G	XP_006722551.1:p.Phe587Leu
XM_011526036.2:c.1761T>G	XP_011524338.1:p.Phe587Leu
XM_011526038.2:c.1758T>G	XP_011524340.1:p.Phe586Leu
XM_011526039.2:c.1761T>G	XP_011524341.1:p.Phe587Leu
XM_011526041.2:c.1578T>G	XP_011524343.1:p.Phe526Leu
XM_011526042.2:c.1761T>G	XP_011524344.1:p.Phe587Leu
XM_017025795.1:c.1755T>G	XP_016881284.1:p.Phe585Leu
XM_017025796.2:c.1581T>G	XP_016881285.1:p.Phe527Leu
XM_017025800.2:c.1575T>G	XP_016881289.1:p.Phe525Leu
XM_017025801.1:c.1572T>G	XP_016881290.1:p.Phe524Leu
XR_002958177.1:n.2226T>G
NM_001353210.3:c.1758T>G	NP_001340139.1:p.Phe586Leu
NM_001353211.3:c.1758T>G	NP_001340140.1:p.Phe586Leu
NM_001353212.3:c.1923T>G	NP_001340141.1:p.Phe641Leu
NM_001353213.3:c.1923T>G	NP_001340142.1:p.Phe641Leu
NM_001353214.3:c.1926T>G MANE Select	NP_001340143.1:p.Phe642Leu
NM_001353215.3:c.1743T>G	NP_001340144.1:p.Phe581Leu
NM_001353216.3:c.1578T>G	NP_001340145.1:p.Phe526Leu
NM_001374428.1:c.1926T>G	NP_001361357.1:p.Phe642Leu
NM_001374429.1:c.1920T>G	NP_001361358.1:p.Phe640Leu
NM_001374430.1:c.1926T>G	NP_001361359.1:p.Phe642Leu
NM_001374431.1:c.1911+21243T>G	NP_001361360.1:n.1911+21243T>G
NM_001374432.1:c.1800T>G	NP_001361361.1:p.Phe600Leu
NM_001374433.1:c.1761T>G	NP_001361362.1:p.Phe587Leu
NM_001374434.1:c.1746+21243T>G	NP_001361363.1:n.1746+21243T>G
NM_001374435.1:c.1743+21243T>G	NP_001361364.1:n.1743+21243T>G
NM_001374436.1:c.1635T>G	NP_001361365.1:p.Phe545Leu
NM_001374437.1:c.1578T>G	NP_001361366.1:p.Phe526Leu
NM_001374438.1:c.1575T>G	NP_001361367.1:p.Phe525Leu
NM_001374439.1:c.1572T>G	NP_001361368.1:p.Phe524Leu
NM_001374440.1:c.1533T>G	NP_001361369.1:p.Phe511Leu
NM_001374441.1:c.1356T>G	NP_001361370.1:p.Phe452Leu
NM_001374442.1:c.1191T>G	NP_001361371.1:p.Phe397Leu
NM_001374443.1:c.1188T>G	NP_001361372.1:p.Phe396Leu
NM_001374444.1:c.1008T>G	NP_001361373.1:p.Phe336Leu
NM_017653.6:c.1761T>G	NP_060123.3:p.Phe587Leu