Canonical Allele Identifier: CA365533639

Gene: TSPYL1 DSE

Linked Data

• ClinVar Variation Id: 2108350
• ClinVar RCV Id: RCV003029446
• gnomAD v4: 6-116279737-G-C
• MyVariant Identifiers: chr6:g.116600900G>C (hg19) ; chr6:g.116279737G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116279737G>C , CM000668.2:g.116279737G>C	GRCh38
NC_000006.11:g.116600900G>C , CM000668.1:g.116600900G>C	GRCh37
NC_000006.10:g.116707593G>C	NCBI36
NG_016217.1:g.5381C>G , LRG_862:g.5381C>G
NG_033266.1:g.4618G>C
NG_033266.3:g.30586G>C
NG_033266.4:g.30567G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368608.4:c.94C>G (TSPYL1) MANE Select	ENSP00000357597.4:p.Gln32Glu
ENST00000647244.1:c.-54+20770G>C (DSE)	ENSP00000495184.1:n.-54+20770G>C
ENST00000652202.1:c.94C>G (TSPYL1)	ENSP00000498597.1:p.Gln32Glu
ENST00000368608.3:c.94C>G (TSPYL1)	ENSP00000357597.3:p.Gln32Glu
ENST00000430252.6:c.-54+20770G>C (DSE)	ENSP00000397597.2:n.-54+20770G>C
ENST00000607094.1:n.589+6G>C (DSE)
NM_003309.3:c.94C>G , LRG_862t1:c.94C>G (TSPYL1)	NP_003300.1:p.Gln32Glu
NM_001322937.1:c.-54+20770G>C (DSE)	NP_001309866.1:n.-54+20770G>C
NM_001322938.1:c.-54+20770G>C (DSE)	NP_001309867.1:n.-54+20770G>C
NM_001322940.1:c.-611+20770G>C (DSE)	NP_001309869.1:n.-611+20770G>C
NM_001322937.2:c.-54+20770G>C (DSE)	NP_001309866.1:n.-54+20770G>C
NM_001322938.2:c.-54+20770G>C (DSE)	NP_001309867.1:n.-54+20770G>C
NM_001322940.2:c.-611+20770G>C (DSE)	NP_001309869.1:n.-611+20770G>C
NM_001374520.1:c.-954+20770G>C (DSE)	NP_001361449.1:n.-954+20770G>C
NM_001374521.1:c.-641+20770G>C (DSE)	NP_001361450.1:n.-641+20770G>C
NM_001374522.1:c.-54+20770G>C (DSE)	NP_001361451.1:n.-54+20770G>C
NM_003309.4:c.94C>G (TSPYL1) MANE Select	NP_003300.1:p.Gln32Glu