Canonical Allele Identifier: CA401031135

Gene: TSEN54

Linked Data

• dbSNP Id: rs1301628423
• MyVariant Identifiers: chr17:g.73520375T>C (hg19) ; chr17:g.75524294T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524294T>C , CM000679.2:g.75524294T>C	GRCh38
NC_000017.10:g.73520375T>C , CM000679.1:g.73520375T>C	GRCh37
NC_000017.9:g.71031970T>C	NCBI36
NG_013041.1:g.12767T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1463T>C MANE Select	ENSP00000327487.6:p.Leu488Pro
ENST00000434205.8:c.1160T>C	ENSP00000406559.4:p.Leu387Pro
ENST00000545228.3:c.1651T>C	ENSP00000438169.3:p.Ser551Pro
ENST00000577197.2:n.661T>C
ENST00000579449.2:n.2203T>C
ENST00000580013.6:n.2607T>C
ENST00000679370.1:n.2985T>C
ENST00000679429.1:c.*921T>C	ENSP00000505403.1:n.*921T>C
ENST00000679443.1:n.1532T>C
ENST00000679782.1:c.*162T>C	ENSP00000505995.1:n.*162T>C
ENST00000679919.1:n.1734T>C
ENST00000679928.1:c.*2015T>C	ENSP00000506071.1:n.*2015T>C
ENST00000680528.1:n.2429T>C
ENST00000680999.1:c.1676T>C	ENSP00000504984.1:p.Leu559Pro
ENST00000681282.1:c.*1650T>C	ENSP00000506339.1:n.*1650T>C
ENST00000333213.10:c.1463T>C	ENSP00000327487.6:p.Leu488Pro
ENST00000545228.2:c.740T>C
ENST00000577197.1:n.211T>C
ENST00000579449.1:n.660T>C
NM_207346.2:c.1463T>C	NP_997229.2:p.Leu488Pro
XM_005257229.2:c.1651T>C	XP_005257286.1:p.Ser551Pro
XM_006721821.2:c.1348T>C	XP_006721884.1:p.Ser450Pro
XM_011524616.1:c.1534T>C	XP_011522918.1:p.Ser512Pro
XM_011524617.1:c.*45T>C	XP_011522919.1:n.*45T>C
XM_011524618.1:c.1346T>C	XP_011522920.1:p.Leu449Pro
XR_243646.2:n.1695T>C
XM_005257229.4:c.1651T>C	XP_005257286.1:p.Ser551Pro
XR_001753015.1:n.87+17A>G
XR_001753016.1:n.88+17A>G
XR_243646.4:n.1701T>C
NM_207346.3:c.1463T>C MANE Select	NP_997229.2:p.Leu488Pro