Canonical Allele Identifier: CA410961173
Community Standard Title: NM_015330.6(SPECC1L):c.2923C>A (p.Gln975Lys)
Gene: SPECC1L HGNC NCBI
SPECC1L-ADORA2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.24365571C>A , CM000684.2:g.24365571C>A GRCh38
NC_000022.10:g.24761539C>A , CM000684.1:g.24761539C>A GRCh37
NC_000022.9:g.23091539C>A NCBI36
NG_031915.2:g.99750C>A

Transcript Alleles

HGVS Amino-acid Change
NM_015330.6:c.2923C>A (SPECC1L) MANE Select NP_056145.5:p.Gln975Lys
ENST00000314328.14:c.2923C>A (SPECC1L) MANE Select ENSP00000325785.8:p.Gln975Lys
NM_001145468.3:c.2923C>A (SPECC1L) NP_001138940.3:p.Gln975Lys
NM_001145468.4:c.2923C>A (SPECC1L) NP_001138940.4:p.Gln975Lys
NM_001254732.2:c.2923C>A (SPECC1L) NP_001241661.2:p.Gln975Lys
NM_001254732.3:c.2923C>A (SPECC1L) NP_001241661.3:p.Gln975Lys
NM_001254733.1:c.121C>A (SPECC1L) NP_001241662.1:p.Gln41Lys
NM_001254733.2:c.121C>A (SPECC1L) NP_001241662.2:p.Gln41Lys
NM_015330.4:c.2923C>A (SPECC1L) NP_056145.4:p.Gln975Lys
NM_015330.5:c.2923C>A (SPECC1L) NP_056145.4:p.Gln975Lys
NR_103546.1:n.3353C>A (SPECC1L-ADORA2A)
ENST00000314328.13:c.2923C>A (SPECC1L) ENSP00000325785.8:p.Gln975Lys
ENST00000358654.2:c.*309C>A (SPECC1L-ADORA2A) ENSP00000351480.2:n.*309C>A
ENST00000437398.5:c.2923C>A (SPECC1L) ENSP00000393363.1:p.Gln975Lys
ENST00000541492.1:c.2923C>A (SPECC1L) ENSP00000439633.1:p.Gln975Lys
ENST00000651059.1:c.2980C>A (SPECC1L) ENSP00000499052.1:p.Gln994Lys