Canonical Allele Identifier: CA415185395

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2971114
• ClinVar RCV Id: RCV003827296
• COSMIC: COSM3559755
• MyVariant Identifiers: chrX:g.153649022C>T (hg19) ; chrX:g.154420683C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420683C>T , CM000685.2:g.154420683C>T	GRCh38
NC_000023.10:g.153649022C>T , CM000685.1:g.153649022C>T	GRCh37
NC_000023.9:g.153302216C>T	NCBI36
NG_009634.1:g.14146C>T
NG_009634.2:g.14149C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1535C>T
ENST00000698317.1:n.2151C>T
ENST00000698318.1:n.1934C>T
ENST00000698319.1:n.1297C>T
ENST00000698320.1:n.1185C>T
ENST00000470127.2:n.1198C>T
ENST00000475699.6:c.689C>T	ENSP00000419854.3:p.Pro230Leu
ENST00000483674.3:n.607C>T
ENST00000601016.6:c.725C>T MANE Select	ENSP00000469981.1:p.Pro242Leu
ENST00000612012.5:c.683C>T	ENSP00000482070.2:p.Pro228Leu
ENST00000612460.5:c.635C>T	ENSP00000481037.1:p.Pro212Leu
ENST00000614595.2:n.2072C>T
ENST00000615658.5:n.1314C>T
ENST00000616020.5:c.737C>T	ENSP00000483636.2:p.Pro246Leu
ENST00000617701.5:c.*738C>T	ENSP00000481645.1:n.*738C>T
ENST00000651139.1:c.-59C>T	ENSP00000498957.1:n.-59C>T
ENST00000652354.1:c.407C>T	ENSP00000498734.1:p.Pro136Leu
ENST00000652358.1:c.518C>T	ENSP00000498464.1:p.Pro173Leu
ENST00000652390.1:c.644C>T	ENSP00000498858.1:p.Pro215Leu
ENST00000652476.1:n.1391C>T
ENST00000652644.1:c.338C>T	ENSP00000498496.1:p.Pro113Leu
ENST00000652682.1:c.782C>T	ENSP00000498288.1:p.Pro261Leu
ENST00000652685.1:n.1078C>T
ENST00000369776.8:c.635C>T	ENSP00000358791.4:p.Pro212Leu
ENST00000426231.5:c.722C>T
ENST00000475699.5:c.683C>T	ENSP00000419854.2:p.Pro228Leu
ENST00000494912.5:n.1414C>T
ENST00000498029.1:n.183C>T
ENST00000601016.5:c.725C>T	ENSP00000469981.1:p.Pro242Leu
ENST00000612460.4:c.635C>T	ENSP00000481037.1:p.Pro212Leu
ENST00000613002.4:c.593C>T	ENSP00000478154.1:p.Pro198Leu
ENST00000615986.4:c.*453C>T	ENSP00000480133.1:n.*453C>T
NM_000116.4:c.725C>T	NP_000107.1:p.Pro242Leu
NM_001303465.1:c.737C>T	NP_001290394.1:p.Pro246Leu
NM_181311.3:c.635C>T	NP_851828.1:p.Pro212Leu
NM_181312.3:c.683C>T	NP_851829.1:p.Pro228Leu
NM_181313.3:c.593C>T	NP_851830.1:p.Pro198Leu
NR_024048.2:n.1067C>T
XM_006724836.1:c.779C>T	XP_006724899.1:p.Pro260Leu
XM_006724837.1:c.764C>T	XP_006724900.1:p.Pro255Leu
XM_006724839.1:c.647C>T	XP_006724902.1:p.Pro216Leu
XM_006724841.2:c.518C>T	XP_006724904.1:p.Pro173Leu
XM_006724842.2:c.428C>T	XP_006724905.1:p.Pro143Leu
XM_011531189.1:c.566C>T	XP_011529491.1:p.Pro189Leu
XM_011531190.1:c.518C>T	XP_011529492.1:p.Pro173Leu
XM_011531191.1:c.449C>T	XP_011529493.1:p.Pro150Leu
XM_011531192.1:c.446C>T	XP_011529494.1:p.Pro149Leu
XR_938511.1:n.1073C>T
XM_006724841.4:c.518C>T	XP_006724904.1:p.Pro173Leu
XM_006724842.4:c.428C>T	XP_006724905.1:p.Pro143Leu
XM_011531191.2:c.449C>T	XP_011529493.1:p.Pro150Leu
XM_017029761.1:c.710C>T	XP_016885250.1:p.Pro237Leu
XM_017029762.1:c.689C>T	XP_016885251.1:p.Pro230Leu
XM_017029763.1:c.512C>T	XP_016885252.1:p.Pro171Leu
XM_017029764.1:c.446C>T	XP_016885253.1:p.Pro149Leu
XM_017029765.2:c.386C>T	XP_016885254.1:p.Pro129Leu
XM_024452431.1:c.683C>T	XP_024308199.1:p.Pro228Leu
NM_000116.5:c.725C>T MANE Select	NP_000107.1:p.Pro242Leu
NM_001303465.2:c.737C>T	NP_001290394.1:p.Pro246Leu
NM_181311.4:c.635C>T	NP_851828.1:p.Pro212Leu
NM_181312.4:c.683C>T	NP_851829.1:p.Pro228Leu
NM_181313.4:c.593C>T	NP_851830.1:p.Pro198Leu
NR_024048.3:n.1046C>T