Canonical Allele Identifier: CA384357351

Gene: DNM1L YARS2

Linked Data

• MyVariant Identifiers: chr12:g.32884001T>C (hg19) ; chr12:g.32731067T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32731067T>C , CM000674.2:g.32731067T>C	GRCh38
NC_000012.11:g.32884001T>C , CM000674.1:g.32884001T>C	GRCh37
NC_000012.10:g.32775268T>C	NCBI36
NG_012219.1:g.56865T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434676.7:c.*499T>C (DNM1L)	ENSP00000390090.2:n.*499T>C
ENST00000546757.6:c.*819T>C (DNM1L)	ENSP00000448105.2:n.*819T>C
ENST00000547078.6:c.1172T>C (DNM1L)	ENSP00000448802.2:p.Leu391Ser
ENST00000547719.2:n.2766T>C (DNM1L)
ENST00000547932.6:c.*499T>C (DNM1L)	ENSP00000515272.1:n.*499T>C
ENST00000548671.6:c.*680T>C (DNM1L)	ENSP00000515271.1:n.*680T>C
ENST00000548750.6:c.1046T>C (DNM1L)	ENSP00000447788.2:p.Leu349Ser
ENST00000549926.6:c.686T>C (DNM1L)	ENSP00000515263.1:p.Leu229Ser
ENST00000550011.6:c.*1123T>C (DNM1L)	ENSP00000515261.1:n.*1123T>C
ENST00000550093.6:n.1220T>C (DNM1L)
ENST00000551076.6:c.*750T>C (DNM1L)	ENSP00000515275.1:n.*750T>C
ENST00000551476.6:c.1082T>C (DNM1L)	ENSP00000447845.2:p.Leu361Ser
ENST00000551643.6:c.*964T>C (DNM1L)	ENSP00000450401.1:n.*964T>C
ENST00000703337.1:c.*930T>C (DNM1L)	ENSP00000515262.1:n.*930T>C
ENST00000703338.1:c.686T>C (DNM1L)	ENSP00000515264.1:p.Leu229Ser
ENST00000703360.1:c.*819T>C (DNM1L)	ENSP00000515270.1:n.*819T>C
ENST00000703361.1:c.764T>C (DNM1L)	ENSP00000515273.1:p.Leu255Ser
ENST00000703362.1:c.*499T>C (DNM1L)	ENSP00000515274.1:n.*499T>C
ENST00000703363.1:n.2754T>C (DNM1L)
ENST00000703364.1:n.2831T>C (DNM1L)
ENST00000703365.1:c.1159T>C (DNM1L)	ENSP00000515276.1:p.Ter387Gln
ENST00000703366.1:n.2193T>C (DNM1L)
ENST00000703367.1:c.1133T>C (DNM1L)	ENSP00000515277.1:p.Leu378Ser
ENST00000703368.1:c.*680T>C (DNM1L)	ENSP00000515278.1:n.*680T>C
ENST00000703369.1:c.764T>C (DNM1L)	ENSP00000515279.1:p.Leu255Ser
ENST00000703370.1:c.686T>C (DNM1L)	ENSP00000515280.1:p.Leu229Ser
ENST00000703371.1:c.686T>C (DNM1L)	ENSP00000515281.1:p.Leu229Ser
ENST00000703372.1:c.926T>C (DNM1L)	ENSP00000515282.1:p.Leu309Ser
ENST00000549701.6:c.1133T>C (DNM1L) MANE Select	ENSP00000450399.1:p.Leu378Ser
ENST00000553257.6:c.1172T>C (DNM1L) MANE Plus Clinical	ENSP00000449089.1:p.Leu391Ser
ENST00000266481.10:c.1133T>C (DNM1L)	ENSP00000266481.6:p.Leu378Ser
ENST00000358214.9:c.1172T>C (DNM1L)	ENSP00000350948.5:p.Leu391Ser
ENST00000381000.8:c.1172T>C (DNM1L)	ENSP00000370388.4:p.Leu391Ser
ENST00000413295.6:c.*382T>C (DNM1L)	ENSP00000396030.2:n.*382T>C
ENST00000414834.6:c.524T>C (DNM1L)	ENSP00000404160.2:p.Leu175Ser
ENST00000452533.6:c.1133T>C (DNM1L)	ENSP00000415131.2:p.Leu378Ser
ENST00000546649.5:c.*375T>C (DNM1L)	ENSP00000448936.1:n.*375T>C
ENST00000546757.5:c.984T>C (DNM1L)	ENSP00000448105.1:n.984T>C
ENST00000547312.5:c.1133T>C (DNM1L)	ENSP00000448610.1:p.Leu378Ser
ENST00000549701.5:c.1133T>C (DNM1L)	ENSP00000450399.1:p.Leu378Ser
ENST00000551673.5:n.460-3548A>G (YARS2)
ENST00000553257.5:c.1172T>C (DNM1L)	ENSP00000449089.1:p.Leu391Ser
NM_001278463.1:c.1133T>C (DNM1L)	NP_001265392.1:p.Leu378Ser
NM_001278464.1:c.1172T>C (DNM1L)	NP_001265393.1:p.Leu391Ser
NM_001278465.1:c.1172T>C (DNM1L)	NP_001265394.1:p.Leu391Ser
NM_001278466.1:c.524T>C (DNM1L)	NP_001265395.1:p.Leu175Ser
NM_005690.4:c.1133T>C (DNM1L)	NP_005681.2:p.Leu378Ser
NM_012062.4:c.1133T>C (DNM1L)	NP_036192.2:p.Leu378Ser
NM_012063.3:c.1133T>C (DNM1L)	NP_036193.2:p.Leu378Ser
XM_005253282.3:c.1172T>C (DNM1L)	XP_005253339.1:p.Leu391Ser
XM_005253283.3:c.686T>C (DNM1L)	XP_005253340.1:p.Leu229Ser
XM_011520543.1:c.1172T>C (DNM1L)	XP_011518845.1:p.Leu391Ser
XM_011520544.1:c.476T>C (DNM1L)	XP_011518846.1:p.Leu159Ser
XR_242891.3:n.1832+565A>G (YARS2)
XR_242892.3:n.1650-5702A>G (YARS2)
XR_429036.1:n.1707+565A>G (YARS2)
XR_931297.1:n.1832+565A>G (YARS2)
XR_931298.1:n.1707+565A>G (YARS2)
XR_931299.1:n.1650-3548A>G (YARS2)
NM_001330380.1:c.1172T>C (DNM1L)	NP_001317309.1:p.Leu391Ser
XM_011520543.3:c.1172T>C (DNM1L)	XP_011518845.1:p.Leu391Ser
XM_011520544.2:c.476T>C (DNM1L)	XP_011518846.1:p.Leu159Ser
XM_017018663.2:c.476T>C (DNM1L)	XP_016874152.1:p.Leu159Ser
XM_017018664.1:c.476T>C (DNM1L)	XP_016874153.1:p.Leu159Ser
XM_017018665.1:c.476T>C (DNM1L)	XP_016874154.1:p.Leu159Ser
XR_001748730.2:n.2272-5702A>G (YARS2)
XR_002957331.1:n.2147-3548A>G (YARS2)
XR_242892.5:n.2147-5702A>G (YARS2)
NM_012062.5:c.1133T>C (DNM1L) MANE Select	NP_036192.2:p.Leu378Ser
NM_001278463.2:c.1133T>C (DNM1L)	NP_001265392.1:p.Leu378Ser
NM_001278464.2:c.1172T>C (DNM1L) MANE Plus Clinical	NP_001265393.1:p.Leu391Ser
NM_001278465.2:c.1172T>C (DNM1L)	NP_001265394.1:p.Leu391Ser
NM_001278466.2:c.524T>C (DNM1L)	NP_001265395.1:p.Leu175Ser
NM_001330380.2:c.1172T>C (DNM1L)	NP_001317309.1:p.Leu391Ser
NM_005690.5:c.1133T>C (DNM1L)	NP_005681.2:p.Leu378Ser
NM_012063.4:c.1133T>C (DNM1L)	NP_036193.2:p.Leu378Ser