Canonical Allele Identifier: CA501819548

Gene: TSEN54

Linked Data

• COSMIC: COSM1479998
• MyVariant Identifiers: chr17:g.73520470T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524389T>C , CM000679.2:g.75524389T>C	GRCh38
NC_000017.10:g.73520470T>C , CM000679.1:g.73520470T>C	GRCh37
NC_000017.9:g.71032065T>C	NCBI36
NG_013041.1:g.12862T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1558T>C MANE Select	ENSP00000327487.6:p.Leu520=
ENST00000434205.8:c.1255T>C	ENSP00000406559.4:p.Leu419=
ENST00000545228.3:c.*57T>C	ENSP00000438169.3:n.*57T>C
ENST00000577197.2:n.756T>C
ENST00000579449.2:n.2298T>C
ENST00000580013.6:n.2702T>C
ENST00000679370.1:n.3080T>C
ENST00000679429.1:c.*1016T>C	ENSP00000505403.1:n.*1016T>C
ENST00000679443.1:n.1627T>C
ENST00000679782.1:c.*257T>C	ENSP00000505995.1:n.*257T>C
ENST00000679919.1:n.1829T>C
ENST00000679928.1:c.*2110T>C	ENSP00000506071.1:n.*2110T>C
ENST00000680528.1:n.2524T>C
ENST00000680999.1:c.1771T>C	ENSP00000504984.1:p.Leu591=
ENST00000681282.1:c.*1745T>C	ENSP00000506339.1:n.*1745T>C
ENST00000333213.10:c.1558T>C	ENSP00000327487.6:p.Leu520=
ENST00000545228.2:c.835T>C
ENST00000577197.1:n.306T>C
ENST00000579449.1:n.755T>C
NM_207346.2:c.1558T>C	NP_997229.2:p.Leu520=
XM_005257229.2:c.*57T>C	XP_005257286.1:n.*57T>C
XM_006721821.2:c.*57T>C	XP_006721884.1:n.*57T>C
XM_011524616.1:c.*57T>C	XP_011522918.1:n.*57T>C
XM_011524618.1:c.1441T>C	XP_011522920.1:p.Leu481=
XR_243646.2:n.1790T>C
XM_005257229.4:c.*57T>C	XP_005257286.1:n.*57T>C
XR_001753015.1:n.9A>G
XR_001753016.1:n.10A>G
XR_243646.4:n.1796T>C
NM_207346.3:c.1558T>C MANE Select	NP_997229.2:p.Leu520=