Canonical Allele Identifier: CA186133

Gene: SPECC1L SPECC1L-ADORA2A

Linked Data

• ClinVar Variation Id: 183671
• ClinVar RCV Id: RCV002221206 ; RCV003556209
• dbSNP Id: rs786201030
• MyVariant Identifiers: chr22:g.24718137A>C (hg19) ; chr22:g.24322169A>C (hg38)
• PubMed: PMID:25412741

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.24322169A>C , CM000684.2:g.24322169A>C	GRCh38
NC_000022.10:g.24718137A>C , CM000684.1:g.24718137A>C	GRCh37
NC_000022.9:g.23048137A>C	NCBI36
NG_031915.2:g.56348A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000314328.14:c.1189A>C (SPECC1L) MANE Select	ENSP00000325785.8:p.Thr397Pro
ENST00000651059.1:c.1246A>C (SPECC1L)	ENSP00000499052.1:p.Thr416Pro
ENST00000314328.13:c.1189A>C (SPECC1L)	ENSP00000325785.8:p.Thr397Pro
ENST00000358654.2:c.1189A>C (SPECC1L-ADORA2A)	ENSP00000351480.2:p.Thr397Pro
ENST00000416735.5:n.481+846A>C (SPECC1L)
ENST00000421374.5:c.1189A>C (SPECC1L)	ENSP00000405671.1:p.Thr397Pro
ENST00000437398.5:c.1189A>C (SPECC1L)	ENSP00000393363.1:p.Thr397Pro
ENST00000541492.1:c.1189A>C (SPECC1L)	ENSP00000439633.1:p.Thr397Pro
NM_001145468.3:c.1189A>C (SPECC1L)	NP_001138940.3:p.Thr397Pro
NM_001254732.2:c.1189A>C (SPECC1L)	NP_001241661.2:p.Thr397Pro
NM_015330.4:c.1189A>C (SPECC1L)	NP_056145.4:p.Thr397Pro
NR_103546.1:n.1497A>C (SPECC1L-ADORA2A)
NM_015330.5:c.1189A>C (SPECC1L)	NP_056145.4:p.Thr397Pro
NM_001145468.4:c.1189A>C (SPECC1L)	NP_001138940.4:p.Thr397Pro
NM_001254732.3:c.1189A>C (SPECC1L)	NP_001241661.3:p.Thr397Pro
NM_015330.6:c.1189A>C (SPECC1L) MANE Select	NP_056145.5:p.Thr397Pro