Canonical Allele Identifier: CA501819477

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520410C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524329C>T , CM000679.2:g.75524329C>T	GRCh38
NC_000017.10:g.73520410C>T , CM000679.1:g.73520410C>T	GRCh37
NC_000017.9:g.71032005C>T	NCBI36
NG_013041.1:g.12802C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1498C>T MANE Select	ENSP00000327487.6:p.Leu500=
ENST00000434205.8:c.1195C>T	ENSP00000406559.4:p.Leu399=
ENST00000545228.3:c.1686C>T	ENSP00000438169.3:p.Leu562=
ENST00000577197.2:n.696C>T
ENST00000579449.2:n.2238C>T
ENST00000580013.6:n.2642C>T
ENST00000679370.1:n.3020C>T
ENST00000679429.1:c.*956C>T	ENSP00000505403.1:n.*956C>T
ENST00000679443.1:n.1567C>T
ENST00000679782.1:c.*197C>T	ENSP00000505995.1:n.*197C>T
ENST00000679919.1:n.1769C>T
ENST00000679928.1:c.*2050C>T	ENSP00000506071.1:n.*2050C>T
ENST00000680528.1:n.2464C>T
ENST00000680999.1:c.1711C>T	ENSP00000504984.1:p.Leu571=
ENST00000681282.1:c.*1685C>T	ENSP00000506339.1:n.*1685C>T
ENST00000333213.10:c.1498C>T	ENSP00000327487.6:p.Leu500=
ENST00000545228.2:c.775C>T
ENST00000577197.1:n.246C>T
ENST00000579449.1:n.695C>T
NM_207346.2:c.1498C>T	NP_997229.2:p.Leu500=
XM_005257229.2:c.1686C>T	XP_005257286.1:p.Leu562=
XM_006721821.2:c.1383C>T	XP_006721884.1:p.Leu461=
XM_011524616.1:c.1569C>T	XP_011522918.1:p.Leu523=
XM_011524617.1:c.*80C>T	XP_011522919.1:n.*80C>T
XM_011524618.1:c.1381C>T	XP_011522920.1:p.Leu461=
XR_243646.2:n.1730C>T
XM_005257229.4:c.1686C>T	XP_005257286.1:p.Leu562=
XR_001753015.1:n.69G>A
XR_001753016.1:n.70G>A
XR_243646.4:n.1736C>T
NM_207346.3:c.1498C>T MANE Select	NP_997229.2:p.Leu500=