Canonical Allele Identifier: CA294078912

Gene: TSEN54

Linked Data

• dbSNP Id: rs866930562
• MyVariant Identifiers: chr17:g.73517911C>T (hg19) ; chr17:g.75521830C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521830C>T , CM000679.2:g.75521830C>T	GRCh38
NC_000017.10:g.73517911C>T , CM000679.1:g.73517911C>T	GRCh37
NC_000017.9:g.71029506C>T	NCBI36
NG_013041.1:g.10303C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.749C>T MANE Select	ENSP00000327487.6:p.Pro250Leu
ENST00000434205.8:c.446C>T	ENSP00000406559.4:p.Pro149Leu
ENST00000545228.3:c.749C>T	ENSP00000438169.3:p.Pro250Leu
ENST00000579449.2:n.548C>T
ENST00000580013.6:n.952C>T
ENST00000583818.2:c.803C>T	ENSP00000461928.2:n.803C>T
ENST00000679370.1:n.1330C>T
ENST00000679429.1:c.*207C>T	ENSP00000505403.1:n.*207C>T
ENST00000679443.1:n.818C>T
ENST00000679782.1:c.749C>T	ENSP00000505995.1:p.Pro250Leu
ENST00000679919.1:n.818C>T
ENST00000679928.1:c.*360C>T	ENSP00000506071.1:n.*360C>T
ENST00000680528.1:n.774C>T
ENST00000680999.1:c.749C>T	ENSP00000504984.1:p.Pro250Leu
ENST00000681282.1:c.778C>T	ENSP00000506339.1:p.Pro260Ser
ENST00000333213.10:c.749C>T	ENSP00000327487.6:p.Pro250Leu
ENST00000578415.1:c.709C>T
ENST00000583173.5:c.459-177C>T	ENSP00000463619.1:n.459-177C>T
ENST00000583818.1:c.698C>T	ENSP00000461928.1:n.698C>T
NM_207346.2:c.749C>T	NP_997229.2:p.Pro250Leu
XM_005257229.2:c.749C>T	XP_005257286.1:p.Pro250Leu
XM_006721821.2:c.446C>T	XP_006721884.1:p.Pro149Leu
XM_011524616.1:c.749C>T	XP_011522918.1:p.Pro250Leu
XM_011524617.1:c.749C>T	XP_011522919.1:p.Pro250Leu
XM_011524618.1:c.749C>T	XP_011522920.1:p.Pro250Leu
XR_243646.2:n.779C>T
XM_005257229.4:c.749C>T	XP_005257286.1:p.Pro250Leu
XR_243646.4:n.785C>T
NM_207346.3:c.749C>T MANE Select	NP_997229.2:p.Pro250Leu