Canonical Allele Identifier: CA322642268

Gene: SPECC1L SPECC1L-ADORA2A

Linked Data

• dbSNP Id: rs5751862
• gnomAD v2: 22-24802564-G-T
• gnomAD v3: 22-24406596-G-T
• gnomAD v4: 22-24406596-G-T
• MyVariant Identifiers: chr22:g.24802564G>T (hg19) ; chr22:g.24406596G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.24406596G>T , CM000684.2:g.24406596G>T	GRCh38
NC_000022.10:g.24802564G>T , CM000684.1:g.24802564G>T	GRCh37
NC_000022.9:g.23132564G>T	NCBI36
NG_031915.2:g.140775G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000314328.14:c.3088-4992G>T (SPECC1L) MANE Select	ENSP00000325785.8:n.3088-4992G>T
ENST00000651059.1:c.3145-4992G>T (SPECC1L)	ENSP00000499052.1:n.3145-4992G>T
ENST00000314328.13:c.3088-4992G>T (SPECC1L)	ENSP00000325785.8:n.3088-4992G>T
ENST00000358654.2:c.*474-4992G>T (SPECC1L-ADORA2A)	ENSP00000351480.2:n.*474-4992G>T
ENST00000437398.5:c.3088-4992G>T (SPECC1L)	ENSP00000393363.1:n.3088-4992G>T
ENST00000541492.1:c.3088-6052G>T (SPECC1L)	ENSP00000439633.1:n.3088-6052G>T
NM_001145468.3:c.3088-4992G>T (SPECC1L)	NP_001138940.3:n.3088-4992G>T
NM_001254732.2:c.3088-6052G>T (SPECC1L)	NP_001241661.2:n.3088-6052G>T
NM_001254733.1:c.286-4992G>T (SPECC1L)	NP_001241662.1:n.286-4992G>T
NM_015330.4:c.3088-4992G>T (SPECC1L)	NP_056145.4:n.3088-4992G>T
NR_103546.1:n.3518-4992G>T (SPECC1L-ADORA2A)
XR_938082.1:n.1890C>A
NM_015330.5:c.3088-4992G>T (SPECC1L)	NP_056145.4:n.3088-4992G>T
NM_001145468.4:c.3088-4992G>T (SPECC1L)	NP_001138940.4:n.3088-4992G>T
NM_001254732.3:c.3088-6052G>T (SPECC1L)	NP_001241661.3:n.3088-6052G>T
NM_001254733.2:c.286-4992G>T (SPECC1L)	NP_001241662.2:n.286-4992G>T
NM_015330.6:c.3088-4992G>T (SPECC1L) MANE Select	NP_056145.5:n.3088-4992G>T