Canonical Allele Identifier: CA401028515

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75521731-T-C
• MyVariant Identifiers: chr17:g.73517812T>C (hg19) ; chr17:g.75521731T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521731T>C , CM000679.2:g.75521731T>C	GRCh38
NC_000017.10:g.73517812T>C , CM000679.1:g.73517812T>C	GRCh37
NC_000017.9:g.71029407T>C	NCBI36
NG_013041.1:g.10204T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.650T>C MANE Select	ENSP00000327487.6:p.Leu217Pro
ENST00000434205.8:c.347T>C	ENSP00000406559.4:p.Leu116Pro
ENST00000545228.3:c.650T>C	ENSP00000438169.3:p.Leu217Pro
ENST00000579449.2:n.449T>C
ENST00000580013.6:n.853T>C
ENST00000583818.2:c.704T>C	ENSP00000461928.2:n.704T>C
ENST00000679370.1:n.1231T>C
ENST00000679429.1:c.*108T>C	ENSP00000505403.1:n.*108T>C
ENST00000679443.1:n.719T>C
ENST00000679782.1:c.650T>C	ENSP00000505995.1:p.Leu217Pro
ENST00000679919.1:n.719T>C
ENST00000679928.1:c.*261T>C	ENSP00000506071.1:n.*261T>C
ENST00000680528.1:n.675T>C
ENST00000680999.1:c.650T>C	ENSP00000504984.1:p.Leu217Pro
ENST00000681282.1:c.679T>C	ENSP00000506339.1:p.Trp227Arg
ENST00000333213.10:c.650T>C	ENSP00000327487.6:p.Leu217Pro
ENST00000578415.1:c.610T>C
ENST00000583173.5:c.458+221T>C	ENSP00000463619.1:n.458+221T>C
ENST00000583818.1:c.599T>C	ENSP00000461928.1:n.599T>C
NM_207346.2:c.650T>C	NP_997229.2:p.Leu217Pro
XM_005257229.2:c.650T>C	XP_005257286.1:p.Leu217Pro
XM_006721821.2:c.347T>C	XP_006721884.1:p.Leu116Pro
XM_011524616.1:c.650T>C	XP_011522918.1:p.Leu217Pro
XM_011524617.1:c.650T>C	XP_011522919.1:p.Leu217Pro
XM_011524618.1:c.650T>C	XP_011522920.1:p.Leu217Pro
XR_243646.2:n.680T>C
XM_005257229.4:c.650T>C	XP_005257286.1:p.Leu217Pro
XR_243646.4:n.686T>C
NM_207346.3:c.650T>C MANE Select	NP_997229.2:p.Leu217Pro