Canonical Allele Identifier: CA10151980

Gene: SPECC1L SPECC1L-ADORA2A

Linked Data

• ClinVar Variation Id: 445410
• ClinVar RCV Id: RCV000514345 ; RCV002481657
• dbSNP Id: rs56168869
• ExAC: 22:24717510 C / T
• gnomAD v2: 22-24717510-C-T
• gnomAD v3: 22-24321542-C-T
• gnomAD v4: 22-24321542-C-T
• MyVariant Identifiers: chr22:g.24717510C>T (hg19) ; chr22:g.24321542C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.24321542C>T , CM000684.2:g.24321542C>T	GRCh38
NC_000022.10:g.24717510C>T , CM000684.1:g.24717510C>T	GRCh37
NC_000022.9:g.23047510C>T	NCBI36
NG_031915.2:g.55721C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000314328.14:c.562C>T (SPECC1L) MANE Select	ENSP00000325785.8:p.Leu188Phe
ENST00000651059.1:c.619C>T (SPECC1L)	ENSP00000499052.1:p.Leu207Phe
ENST00000314328.13:c.562C>T (SPECC1L)	ENSP00000325785.8:p.Leu188Phe
ENST00000358654.2:c.562C>T (SPECC1L-ADORA2A)	ENSP00000351480.2:p.Leu188Phe
ENST00000416735.5:n.481+219C>T (SPECC1L)
ENST00000421374.5:c.562C>T (SPECC1L)	ENSP00000405671.1:p.Leu188Phe
ENST00000437398.5:c.562C>T (SPECC1L)	ENSP00000393363.1:p.Leu188Phe
ENST00000440893.1:c.379C>T (SPECC1L)	ENSP00000414354.1:p.Leu127Phe
ENST00000541492.1:c.562C>T (SPECC1L)	ENSP00000439633.1:p.Leu188Phe
NM_001145468.3:c.562C>T (SPECC1L)	NP_001138940.3:p.Leu188Phe
NM_001254732.2:c.562C>T (SPECC1L)	NP_001241661.2:p.Leu188Phe
NM_015330.4:c.562C>T (SPECC1L)	NP_056145.4:p.Leu188Phe
NR_103546.1:n.870C>T (SPECC1L-ADORA2A)
NM_015330.5:c.562C>T (SPECC1L)	NP_056145.4:p.Leu188Phe
NM_001145468.4:c.562C>T (SPECC1L)	NP_001138940.4:p.Leu188Phe
NM_001254732.3:c.562C>T (SPECC1L)	NP_001241661.3:p.Leu188Phe
NM_015330.6:c.562C>T (SPECC1L) MANE Select	NP_056145.5:p.Leu188Phe