Canonical Allele Identifier: CA384357385

Gene: DNM1L YARS2

Linked Data

• gnomAD v4: 12-32731082-C-T
• MyVariant Identifiers: chr12:g.32884016C>T (hg19) ; chr12:g.32731082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32731082C>T , CM000674.2:g.32731082C>T	GRCh38
NC_000012.11:g.32884016C>T , CM000674.1:g.32884016C>T	GRCh37
NC_000012.10:g.32775283C>T	NCBI36
NG_012219.1:g.56880C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434676.7:c.*514C>T (DNM1L)	ENSP00000390090.2:n.*514C>T
ENST00000546757.6:c.*834C>T (DNM1L)	ENSP00000448105.2:n.*834C>T
ENST00000547078.6:c.1187C>T (DNM1L)	ENSP00000448802.2:p.Pro396Leu
ENST00000547719.2:n.2781C>T (DNM1L)
ENST00000547932.6:c.*514C>T (DNM1L)	ENSP00000515272.1:n.*514C>T
ENST00000548671.6:c.*695C>T (DNM1L)	ENSP00000515271.1:n.*695C>T
ENST00000548750.6:c.1061C>T (DNM1L)	ENSP00000447788.2:p.Pro354Leu
ENST00000549926.6:c.701C>T (DNM1L)	ENSP00000515263.1:p.Pro234Leu
ENST00000550011.6:c.*1138C>T (DNM1L)	ENSP00000515261.1:n.*1138C>T
ENST00000550093.6:n.1235C>T (DNM1L)
ENST00000551076.6:c.*765C>T (DNM1L)	ENSP00000515275.1:n.*765C>T
ENST00000551476.6:c.1097C>T (DNM1L)	ENSP00000447845.2:p.Pro366Leu
ENST00000551643.6:c.*979C>T (DNM1L)	ENSP00000450401.1:n.*979C>T
ENST00000703337.1:c.*945C>T (DNM1L)	ENSP00000515262.1:n.*945C>T
ENST00000703338.1:c.701C>T (DNM1L)	ENSP00000515264.1:p.Pro234Leu
ENST00000703360.1:c.*834C>T (DNM1L)	ENSP00000515270.1:n.*834C>T
ENST00000703361.1:c.779C>T (DNM1L)	ENSP00000515273.1:p.Pro260Leu
ENST00000703362.1:c.*514C>T (DNM1L)	ENSP00000515274.1:n.*514C>T
ENST00000703363.1:n.2769C>T (DNM1L)
ENST00000703364.1:n.2846C>T (DNM1L)
ENST00000703365.1:c.*13C>T (DNM1L)	ENSP00000515276.1:n.*13C>T
ENST00000703366.1:n.2208C>T (DNM1L)
ENST00000703367.1:c.1148C>T (DNM1L)	ENSP00000515277.1:p.Pro383Leu
ENST00000703368.1:c.*695C>T (DNM1L)	ENSP00000515278.1:n.*695C>T
ENST00000703369.1:c.779C>T (DNM1L)	ENSP00000515279.1:p.Pro260Leu
ENST00000703370.1:c.701C>T (DNM1L)	ENSP00000515280.1:p.Pro234Leu
ENST00000703371.1:c.701C>T (DNM1L)	ENSP00000515281.1:p.Pro234Leu
ENST00000703372.1:c.941C>T (DNM1L)	ENSP00000515282.1:p.Pro314Leu
ENST00000549701.6:c.1148C>T (DNM1L) MANE Select	ENSP00000450399.1:p.Pro383Leu
ENST00000553257.6:c.1187C>T (DNM1L) MANE Plus Clinical	ENSP00000449089.1:p.Pro396Leu
ENST00000266481.10:c.1148C>T (DNM1L)	ENSP00000266481.6:p.Pro383Leu
ENST00000358214.9:c.1187C>T (DNM1L)	ENSP00000350948.5:p.Pro396Leu
ENST00000381000.8:c.1187C>T (DNM1L)	ENSP00000370388.4:p.Pro396Leu
ENST00000413295.6:c.*397C>T (DNM1L)	ENSP00000396030.2:n.*397C>T
ENST00000414834.6:c.539C>T (DNM1L)	ENSP00000404160.2:p.Pro180Leu
ENST00000452533.6:c.1148C>T (DNM1L)	ENSP00000415131.2:p.Pro383Leu
ENST00000546649.5:c.*390C>T (DNM1L)	ENSP00000448936.1:n.*390C>T
ENST00000546757.5:c.999C>T (DNM1L)	ENSP00000448105.1:n.999C>T
ENST00000547312.5:c.1148C>T (DNM1L)	ENSP00000448610.1:p.Pro383Leu
ENST00000549701.5:c.1148C>T (DNM1L)	ENSP00000450399.1:p.Pro383Leu
ENST00000551673.5:n.460-3563G>A (YARS2)
ENST00000553257.5:c.1187C>T (DNM1L)	ENSP00000449089.1:p.Pro396Leu
NM_001278463.1:c.1148C>T (DNM1L)	NP_001265392.1:p.Pro383Leu
NM_001278464.1:c.1187C>T (DNM1L)	NP_001265393.1:p.Pro396Leu
NM_001278465.1:c.1187C>T (DNM1L)	NP_001265394.1:p.Pro396Leu
NM_001278466.1:c.539C>T (DNM1L)	NP_001265395.1:p.Pro180Leu
NM_005690.4:c.1148C>T (DNM1L)	NP_005681.2:p.Pro383Leu
NM_012062.4:c.1148C>T (DNM1L)	NP_036192.2:p.Pro383Leu
NM_012063.3:c.1148C>T (DNM1L)	NP_036193.2:p.Pro383Leu
XM_005253282.3:c.1187C>T (DNM1L)	XP_005253339.1:p.Pro396Leu
XM_005253283.3:c.701C>T (DNM1L)	XP_005253340.1:p.Pro234Leu
XM_011520543.1:c.1187C>T (DNM1L)	XP_011518845.1:p.Pro396Leu
XM_011520544.1:c.491C>T (DNM1L)	XP_011518846.1:p.Pro164Leu
XR_242891.3:n.1832+550G>A (YARS2)
XR_242892.3:n.1650-5717G>A (YARS2)
XR_429036.1:n.1707+550G>A (YARS2)
XR_931297.1:n.1832+550G>A (YARS2)
XR_931298.1:n.1707+550G>A (YARS2)
XR_931299.1:n.1650-3563G>A (YARS2)
NM_001330380.1:c.1187C>T (DNM1L)	NP_001317309.1:p.Pro396Leu
XM_011520543.3:c.1187C>T (DNM1L)	XP_011518845.1:p.Pro396Leu
XM_011520544.2:c.491C>T (DNM1L)	XP_011518846.1:p.Pro164Leu
XM_017018663.2:c.491C>T (DNM1L)	XP_016874152.1:p.Pro164Leu
XM_017018664.1:c.491C>T (DNM1L)	XP_016874153.1:p.Pro164Leu
XM_017018665.1:c.491C>T (DNM1L)	XP_016874154.1:p.Pro164Leu
XR_001748730.2:n.2272-5717G>A (YARS2)
XR_002957331.1:n.2147-3563G>A (YARS2)
XR_242892.5:n.2147-5717G>A (YARS2)
NM_012062.5:c.1148C>T (DNM1L) MANE Select	NP_036192.2:p.Pro383Leu
NM_001278463.2:c.1148C>T (DNM1L)	NP_001265392.1:p.Pro383Leu
NM_001278464.2:c.1187C>T (DNM1L) MANE Plus Clinical	NP_001265393.1:p.Pro396Leu
NM_001278465.2:c.1187C>T (DNM1L)	NP_001265394.1:p.Pro396Leu
NM_001278466.2:c.539C>T (DNM1L)	NP_001265395.1:p.Pro180Leu
NM_001330380.2:c.1187C>T (DNM1L)	NP_001317309.1:p.Pro396Leu
NM_005690.5:c.1148C>T (DNM1L)	NP_005681.2:p.Pro383Leu
NM_012063.4:c.1148C>T (DNM1L)	NP_036193.2:p.Pro383Leu