Canonical Allele Identifier: CA502045875

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73517823C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521742C>T , CM000679.2:g.75521742C>T	GRCh38
NC_000017.10:g.73517823C>T , CM000679.1:g.73517823C>T	GRCh37
NC_000017.9:g.71029418C>T	NCBI36
NG_013041.1:g.10215C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.661C>T MANE Select	ENSP00000327487.6:p.Leu221=
ENST00000434205.8:c.358C>T	ENSP00000406559.4:p.Leu120=
ENST00000545228.3:c.661C>T	ENSP00000438169.3:p.Leu221=
ENST00000579449.2:n.460C>T
ENST00000580013.6:n.864C>T
ENST00000583818.2:c.715C>T	ENSP00000461928.2:n.715C>T
ENST00000679370.1:n.1242C>T
ENST00000679429.1:c.*119C>T	ENSP00000505403.1:n.*119C>T
ENST00000679443.1:n.730C>T
ENST00000679782.1:c.661C>T	ENSP00000505995.1:p.Leu221=
ENST00000679919.1:n.730C>T
ENST00000679928.1:c.*272C>T	ENSP00000506071.1:n.*272C>T
ENST00000680528.1:n.686C>T
ENST00000680999.1:c.661C>T	ENSP00000504984.1:p.Leu221=
ENST00000681282.1:c.690C>T	ENSP00000506339.1:p.Pro230=
ENST00000333213.10:c.661C>T	ENSP00000327487.6:p.Leu221=
ENST00000578415.1:c.621C>T
ENST00000583173.5:c.458+232C>T	ENSP00000463619.1:n.458+232C>T
ENST00000583818.1:c.610C>T	ENSP00000461928.1:n.610C>T
NM_207346.2:c.661C>T	NP_997229.2:p.Leu221=
XM_005257229.2:c.661C>T	XP_005257286.1:p.Leu221=
XM_006721821.2:c.358C>T	XP_006721884.1:p.Leu120=
XM_011524616.1:c.661C>T	XP_011522918.1:p.Leu221=
XM_011524617.1:c.661C>T	XP_011522919.1:p.Leu221=
XM_011524618.1:c.661C>T	XP_011522920.1:p.Leu221=
XR_243646.2:n.691C>T
XM_005257229.4:c.661C>T	XP_005257286.1:p.Leu221=
XR_243646.4:n.697C>T
NM_207346.3:c.661C>T MANE Select	NP_997229.2:p.Leu221=