Canonical Allele Identifier: CA415182143

Gene: TAFAZZIN

Linked Data

• COSMIC: COSM356608
• MyVariant Identifiers: chrX:g.153641902G>T (hg19) ; chrX:g.154413565G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413565G>T , CM000685.2:g.154413565G>T	GRCh38
NC_000023.10:g.153641902G>T , CM000685.1:g.153641902G>T	GRCh37
NC_000023.9:g.153295096G>T	NCBI36
NG_009634.1:g.7026G>T
NG_012884.2:g.3524C>A
NG_009634.2:g.7031G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.902G>T
ENST00000698235.1:n.442G>T
ENST00000698317.1:n.1428G>T
ENST00000698318.1:n.1301G>T
ENST00000470127.2:n.646G>T
ENST00000475699.6:c.422G>T	ENSP00000419854.3:p.Arg141Leu
ENST00000476800.2:n.1554G>T
ENST00000483674.3:n.259G>T
ENST00000601016.6:c.368G>T MANE Select	ENSP00000469981.1:p.Arg123Leu
ENST00000612012.5:c.368G>T	ENSP00000482070.2:p.Arg123Leu
ENST00000612460.5:c.368G>T	ENSP00000481037.1:p.Arg123Leu
ENST00000614595.2:n.1805G>T
ENST00000615658.5:n.681G>T
ENST00000616020.5:c.422G>T	ENSP00000483636.2:p.Arg141Leu
ENST00000617701.5:c.*186G>T	ENSP00000481645.1:n.*186G>T
ENST00000621647.2:n.650G>T
ENST00000652354.1:c.92G>T	ENSP00000498734.1:p.Arg31Leu
ENST00000652358.1:c.161G>T	ENSP00000498464.1:p.Arg54Leu
ENST00000652390.1:c.287G>T	ENSP00000498858.1:p.Arg96Leu
ENST00000652476.1:n.758G>T
ENST00000652644.1:c.14G>T	ENSP00000498496.1:p.Arg5Leu
ENST00000652682.1:c.368G>T	ENSP00000498288.1:p.Arg123Leu
ENST00000652685.1:n.526G>T
ENST00000369776.8:c.293G>T	ENSP00000358791.4:p.Arg98Leu
ENST00000426231.5:c.284G>T
ENST00000439735.2:c.368G>T	ENSP00000398193.1:p.Arg123Leu
ENST00000470127.1:n.37G>T
ENST00000475699.5:c.368G>T	ENSP00000419854.2:p.Arg123Leu
ENST00000476679.5:n.281G>T
ENST00000476800.1:n.475G>T
ENST00000479875.1:n.397G>T
ENST00000483674.2:n.77G>T
ENST00000483780.5:n.142G>T
ENST00000601016.5:c.368G>T	ENSP00000469981.1:p.Arg123Leu
ENST00000612012.4:c.422G>T	ENSP00000482070.1:p.Arg141Leu
ENST00000612460.4:c.368G>T	ENSP00000481037.1:p.Arg123Leu
ENST00000613002.4:c.368G>T	ENSP00000478154.1:p.Arg123Leu
ENST00000613634.4:n.688G>T
ENST00000615658.4:n.781G>T
ENST00000615986.4:c.*186G>T	ENSP00000480133.1:n.*186G>T
ENST00000616020.4:c.422G>T	ENSP00000483636.1:p.Arg141Leu
ENST00000617701.4:c.*198G>T	ENSP00000481645.1:n.*198G>T
ENST00000620808.4:c.*167G>T	ENSP00000479311.1:n.*167G>T
ENST00000621647.1:n.882G>T
NM_000116.4:c.368G>T	NP_000107.1:p.Arg123Leu
NM_001303465.1:c.422G>T	NP_001290394.1:p.Arg141Leu
NM_181311.3:c.368G>T	NP_851828.1:p.Arg123Leu
NM_181312.3:c.368G>T	NP_851829.1:p.Arg123Leu
NM_181313.3:c.368G>T	NP_851830.1:p.Arg123Leu
NR_024048.2:n.800G>T
XM_006724836.1:c.422G>T	XP_006724899.1:p.Arg141Leu
XM_006724837.1:c.422G>T	XP_006724900.1:p.Arg141Leu
XM_006724839.1:c.422G>T	XP_006724902.1:p.Arg141Leu
XM_006724841.2:c.161G>T	XP_006724904.1:p.Arg54Leu
XM_006724842.2:c.161G>T	XP_006724905.1:p.Arg54Leu
XM_011531189.1:c.422G>T	XP_011529491.1:p.Arg141Leu
XM_011531190.1:c.161G>T	XP_011529492.1:p.Arg54Leu
XM_011531191.1:c.92G>T	XP_011529493.1:p.Arg31Leu
XM_011531192.1:c.89G>T	XP_011529494.1:p.Arg30Leu
XR_938511.1:n.725G>T
XM_006724841.4:c.161G>T	XP_006724904.1:p.Arg54Leu
XM_006724842.4:c.161G>T	XP_006724905.1:p.Arg54Leu
XM_011531191.2:c.92G>T	XP_011529493.1:p.Arg31Leu
XM_017029761.1:c.368G>T	XP_016885250.1:p.Arg123Leu
XM_017029762.1:c.422G>T	XP_016885251.1:p.Arg141Leu
XM_017029763.1:c.368G>T	XP_016885252.1:p.Arg123Leu
XM_017029764.1:c.89G>T	XP_016885253.1:p.Arg30Leu
XM_017029765.2:c.161G>T	XP_016885254.1:p.Arg54Leu
XM_024452431.1:c.422G>T	XP_024308199.1:p.Arg141Leu
NM_000116.5:c.368G>T MANE Select	NP_000107.1:p.Arg123Leu
NM_001303465.2:c.422G>T	NP_001290394.1:p.Arg141Leu
NM_181311.4:c.368G>T	NP_851828.1:p.Arg123Leu
NM_181312.4:c.368G>T	NP_851829.1:p.Arg123Leu
NM_181313.4:c.368G>T	NP_851830.1:p.Arg123Leu
NR_024048.3:n.779G>T