Canonical Allele Identifier: CA249942

Gene: TSEN15

Linked Data

• ClinVar Variation Id: 183315
• ClinVar RCV Id: RCV000162135 ; RCV000234989
• dbSNP Id: rs730882223
• MyVariant Identifiers: chr1:g.184023870T>G (hg19) ; chr1:g.184054736T>G (hg38)
• PubMed: PMID:25558065 ; PMID:27392077

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.184054736T>G , CM000663.2:g.184054736T>G	GRCh38
NC_000001.10:g.184023870T>G , CM000663.1:g.184023870T>G	GRCh37
NC_000001.9:g.182290493T>G	NCBI36
NG_050569.1:g.8086T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361641.6:c.226T>G	ENSP00000355299.2:p.Trp76Gly
ENST00000367518.4:n.264T>G
ENST00000423085.7:c.226T>G	ENSP00000402002.2:p.Trp76Gly
ENST00000462677.3:c.226T>G	ENSP00000432397.2:p.Trp76Gly
ENST00000485209.6:c.226T>G	ENSP00000435144.1:p.Trp76Gly
ENST00000533373.6:c.226T>G	ENSP00000436996.1:p.Trp76Gly
ENST00000643231.1:c.226T>G	ENSP00000494932.1:p.Trp76Gly
ENST00000643702.1:c.179+301T>G
ENST00000643916.1:c.144T>G	ENSP00000494533.1:p.Ala48=
ENST00000644145.1:c.*78T>G	ENSP00000494455.1:n.*78T>G
ENST00000644479.1:c.226T>G	ENSP00000496242.1:p.Trp76Gly
ENST00000644592.1:c.226T>G	ENSP00000495621.1:p.Trp76Gly
ENST00000644815.1:c.117T>G
ENST00000645668.2:c.226T>G MANE Select	ENSP00000493902.2:p.Trp76Gly
ENST00000645963.2:c.226T>G	ENSP00000495409.2:p.Trp76Gly
ENST00000646297.2:c.226T>G	ENSP00000496688.2:p.Trp76Gly
ENST00000647437.1:c.226T>G	ENSP00000495178.1:p.Trp76Gly
ENST00000647465.1:c.226T>G	ENSP00000495344.1:p.Trp76Gly
ENST00000361641.5:c.226T>G	ENSP00000355299.1:p.Trp76Gly
ENST00000367518.3:n.249T>G
ENST00000423085.6:c.226T>G	ENSP00000402002.2:p.Trp76Gly
ENST00000457455.1:n.84T>G
ENST00000462677.2:c.222T>G
ENST00000485209.5:c.226T>G	ENSP00000435144.1:p.Trp76Gly
ENST00000533373.5:c.226T>G	ENSP00000436996.1:p.Trp76Gly
NM_001127394.3:c.226T>G	NP_001120866.1:p.Trp76Gly
NM_001300764.1:c.226T>G	NP_001287693.1:p.Trp76Gly
NM_001300766.1:c.226T>G	NP_001287695.1:p.Trp76Gly
NM_052965.3:c.226T>G	NP_443197.1:p.Trp76Gly
NR_023349.2:n.331T>G
NR_125335.1:n.331T>G
XM_006711148.1:c.226T>G	XP_006711211.1:p.Trp76Gly
XM_011509139.1:c.226T>G	XP_011507441.1:p.Trp76Gly
NM_001363643.1:c.226T>G	NP_001350572.1:p.Trp76Gly
XM_006711148.2:c.226T>G	XP_006711211.1:p.Trp76Gly
XM_011509139.3:c.226T>G	XP_011507441.1:p.Trp76Gly
XM_017000228.2:c.226T>G	XP_016855717.1:p.Trp76Gly
XM_017000229.2:c.226T>G	XP_016855718.1:p.Trp76Gly
XM_017000230.2:c.226T>G	XP_016855719.1:p.Trp76Gly
NM_001127394.4:c.226T>G	NP_001120866.1:p.Trp76Gly
NM_001300764.2:c.226T>G	NP_001287693.1:p.Trp76Gly
NM_001300766.2:c.226T>G	NP_001287695.1:p.Trp76Gly
NM_001363643.2:c.226T>G	NP_001350572.1:p.Trp76Gly
NM_052965.4:c.226T>G MANE Select	NP_443197.1:p.Trp76Gly
NR_023349.3:n.252T>G
NR_125335.2:n.252T>G