Canonical Allele Identifier: CA365533507

Gene: TSPYL1 DSE

Linked Data

• ClinVar Variation Id: 2281431
• ClinVar RCV Id: RCV002848502
• gnomAD v4: 6-116279676-C-G
• MyVariant Identifiers: chr6:g.116600839C>G (hg19) ; chr6:g.116279676C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116279676C>G , CM000668.2:g.116279676C>G	GRCh38
NC_000006.11:g.116600839C>G , CM000668.1:g.116600839C>G	GRCh37
NC_000006.10:g.116707532C>G	NCBI36
NG_016217.1:g.5442G>C , LRG_862:g.5442G>C
NG_033266.1:g.4557C>G
NG_033266.3:g.30525C>G
NG_033266.4:g.30506C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368608.4:c.155G>C (TSPYL1) MANE Select	ENSP00000357597.4:p.Gly52Ala
ENST00000647244.1:c.-54+20709C>G (DSE)	ENSP00000495184.1:n.-54+20709C>G
ENST00000652202.1:c.155G>C (TSPYL1)	ENSP00000498597.1:p.Gly52Ala
ENST00000368608.3:c.155G>C (TSPYL1)	ENSP00000357597.3:p.Gly52Ala
ENST00000430252.6:c.-54+20709C>G (DSE)	ENSP00000397597.2:n.-54+20709C>G
ENST00000607094.1:n.534C>G (DSE)
NM_003309.3:c.155G>C , LRG_862t1:c.155G>C (TSPYL1)	NP_003300.1:p.Gly52Ala
NM_001322937.1:c.-54+20709C>G (DSE)	NP_001309866.1:n.-54+20709C>G
NM_001322938.1:c.-54+20709C>G (DSE)	NP_001309867.1:n.-54+20709C>G
NM_001322940.1:c.-611+20709C>G (DSE)	NP_001309869.1:n.-611+20709C>G
NM_001322937.2:c.-54+20709C>G (DSE)	NP_001309866.1:n.-54+20709C>G
NM_001322938.2:c.-54+20709C>G (DSE)	NP_001309867.1:n.-54+20709C>G
NM_001322940.2:c.-611+20709C>G (DSE)	NP_001309869.1:n.-611+20709C>G
NM_001374520.1:c.-954+20709C>G (DSE)	NP_001361449.1:n.-954+20709C>G
NM_001374521.1:c.-641+20709C>G (DSE)	NP_001361450.1:n.-641+20709C>G
NM_001374522.1:c.-54+20709C>G (DSE)	NP_001361451.1:n.-54+20709C>G
NM_003309.4:c.155G>C (TSPYL1) MANE Select	NP_003300.1:p.Gly52Ala