Canonical Allele Identifier: CA503936287

Gene: DYM

Linked Data

• MyVariant Identifiers: chr18:g.46645147A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49118777A>T , CM000680.2:g.49118777A>T	GRCh38
NC_000018.9:g.46645147A>T , CM000680.1:g.46645147A>T	GRCh37
NC_000018.8:g.44899145A>T	NCBI36
NG_009239.1:g.346933T>A
NG_009239.2:g.346957T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000675505.1:c.1878T>A MANE Select	ENSP00000501694.1:p.Pro626=
ENST00000269445.10:c.1713T>A	ENSP00000269445.6:p.Pro571=
ENST00000442713.6:c.1143T>A	ENSP00000395942.2:p.Pro381=
NM_017653.3:c.1713T>A	NP_060123.3:p.Pro571=
XM_006722488.2:c.1713T>A	XP_006722551.1:p.Pro571=
XM_006722490.2:c.1713T>A	XP_006722553.1:p.Pro571=
XM_011526036.1:c.1713T>A	XP_011524338.1:p.Pro571=
XM_011526037.1:c.1710T>A	XP_011524339.1:p.Pro570=
XM_011526038.1:c.1710T>A	XP_011524340.1:p.Pro570=
XM_011526039.1:c.1713T>A	XP_011524341.1:p.Pro571=
XM_011526040.1:c.1545T>A	XP_011524342.1:p.Pro515=
XM_011526041.1:c.1564-21262T>A	XP_011524343.1:n.1564-21262T>A
XM_011526042.1:c.1713T>A	XP_011524344.1:p.Pro571=
XM_011526043.1:c.1713T>A	XP_011524345.1:p.Pro571=
NM_001353210.1:c.1710T>A	NP_001340139.1:p.Pro570=
NM_001353211.1:c.1710T>A	NP_001340140.1:p.Pro570=
NM_001353212.1:c.1875T>A	NP_001340141.1:p.Pro625=
NM_001353213.1:c.1875T>A	NP_001340142.1:p.Pro625=
NM_001353214.1:c.1878T>A	NP_001340143.1:p.Pro626=
NM_001353215.1:c.1729-21262T>A	NP_001340144.1:n.1729-21262T>A
NM_001353216.1:c.1564-21262T>A	NP_001340145.1:n.1564-21262T>A
NM_017653.4:c.1713T>A	NP_060123.3:p.Pro571=
XM_006722488.3:c.1713T>A	XP_006722551.1:p.Pro571=
XM_011526036.2:c.1713T>A	XP_011524338.1:p.Pro571=
XM_011526038.2:c.1710T>A	XP_011524340.1:p.Pro570=
XM_011526039.2:c.1713T>A	XP_011524341.1:p.Pro571=
XM_011526041.2:c.1564-21262T>A	XP_011524343.1:n.1564-21262T>A
XM_011526042.2:c.1713T>A	XP_011524344.1:p.Pro571=
XM_017025795.1:c.1707T>A	XP_016881284.1:p.Pro569=
XM_017025796.2:c.1533T>A	XP_016881285.1:p.Pro511=
XM_017025800.2:c.1561-21262T>A	XP_016881289.1:n.1561-21262T>A
XM_017025801.1:c.1558-21262T>A	XP_016881290.1:n.1558-21262T>A
XR_002958177.1:n.2070T>A
NM_001353210.3:c.1710T>A	NP_001340139.1:p.Pro570=
NM_001353211.3:c.1710T>A	NP_001340140.1:p.Pro570=
NM_001353212.3:c.1875T>A	NP_001340141.1:p.Pro625=
NM_001353213.3:c.1875T>A	NP_001340142.1:p.Pro625=
NM_001353214.3:c.1878T>A MANE Select	NP_001340143.1:p.Pro626=
NM_001353215.3:c.1729-21262T>A	NP_001340144.1:n.1729-21262T>A
NM_001353216.3:c.1564-21262T>A	NP_001340145.1:n.1564-21262T>A
NM_001374428.1:c.1878T>A	NP_001361357.1:p.Pro626=
NM_001374429.1:c.1872T>A	NP_001361358.1:p.Pro624=
NM_001374430.1:c.1878T>A	NP_001361359.1:p.Pro626=
NM_001374431.1:c.1878T>A	NP_001361360.1:p.Pro626=
NM_001374432.1:c.1752T>A	NP_001361361.1:p.Pro584=
NM_001374433.1:c.1713T>A	NP_001361362.1:p.Pro571=
NM_001374434.1:c.1713T>A	NP_001361363.1:p.Pro571=
NM_001374435.1:c.1710T>A	NP_001361364.1:p.Pro570=
NM_001374436.1:c.1587T>A	NP_001361365.1:p.Pro529=
NM_001374437.1:c.1530T>A	NP_001361366.1:p.Pro510=
NM_001374438.1:c.1561-21262T>A	NP_001361367.1:n.1561-21262T>A
NM_001374439.1:c.1558-21262T>A	NP_001361368.1:n.1558-21262T>A
NM_001374440.1:c.1485T>A	NP_001361369.1:p.Pro495=
NM_001374441.1:c.1308T>A	NP_001361370.1:p.Pro436=
NM_001374442.1:c.1143T>A	NP_001361371.1:p.Pro381=
NM_001374443.1:c.1140T>A	NP_001361372.1:p.Pro380=
NM_001374444.1:c.994-21262T>A	NP_001361373.1:n.994-21262T>A
NM_017653.6:c.1713T>A	NP_060123.3:p.Pro571=