Canonical Allele Identifier: CA401031102

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520366T>C (hg19) ; chr17:g.75524285T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524285T>C , CM000679.2:g.75524285T>C	GRCh38
NC_000017.10:g.73520366T>C , CM000679.1:g.73520366T>C	GRCh37
NC_000017.9:g.71031961T>C	NCBI36
NG_013041.1:g.12758T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1454T>C MANE Select	ENSP00000327487.6:p.Leu485Pro
ENST00000434205.8:c.1151T>C	ENSP00000406559.4:p.Leu384Pro
ENST00000545228.3:c.1642T>C	ENSP00000438169.3:p.Ser548Pro
ENST00000577197.2:n.652T>C
ENST00000579449.2:n.2194T>C
ENST00000580013.6:n.2598T>C
ENST00000679370.1:n.2976T>C
ENST00000679429.1:c.*912T>C	ENSP00000505403.1:n.*912T>C
ENST00000679443.1:n.1523T>C
ENST00000679782.1:c.*153T>C	ENSP00000505995.1:n.*153T>C
ENST00000679919.1:n.1725T>C
ENST00000679928.1:c.*2006T>C	ENSP00000506071.1:n.*2006T>C
ENST00000680528.1:n.2420T>C
ENST00000680999.1:c.1667T>C	ENSP00000504984.1:p.Leu556Pro
ENST00000681282.1:c.*1641T>C	ENSP00000506339.1:n.*1641T>C
ENST00000333213.10:c.1454T>C	ENSP00000327487.6:p.Leu485Pro
ENST00000545228.2:c.731T>C
ENST00000577197.1:n.202T>C
ENST00000579449.1:n.651T>C
NM_207346.2:c.1454T>C	NP_997229.2:p.Leu485Pro
XM_005257229.2:c.1642T>C	XP_005257286.1:p.Ser548Pro
XM_006721821.2:c.1339T>C	XP_006721884.1:p.Ser447Pro
XM_011524616.1:c.1525T>C	XP_011522918.1:p.Ser509Pro
XM_011524617.1:c.*36T>C	XP_011522919.1:n.*36T>C
XM_011524618.1:c.1337T>C	XP_011522920.1:p.Leu446Pro
XR_243646.2:n.1686T>C
XM_005257229.4:c.1642T>C	XP_005257286.1:p.Ser548Pro
XR_001753015.1:n.87+26A>G
XR_001753016.1:n.88+26A>G
XR_243646.4:n.1692T>C
NM_207346.3:c.1454T>C MANE Select	NP_997229.2:p.Leu485Pro