Canonical Allele Identifier: CA10152111
Community Standard Title: NM_015330.6(SPECC1L):c.1399C>T (p.Arg467Cys)
Gene: SPECC1L HGNC NCBI
SPECC1L-ADORA2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.24322379C>T , CM000684.2:g.24322379C>T GRCh38
NC_000022.10:g.24718347C>T , CM000684.1:g.24718347C>T GRCh37
NC_000022.9:g.23048347C>T NCBI36
NG_031915.2:g.56558C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015330.6:c.1399C>T (SPECC1L) MANE Select NP_056145.5:p.Arg467Cys
ENST00000314328.14:c.1399C>T (SPECC1L) MANE Select ENSP00000325785.8:p.Arg467Cys
NM_001145468.3:c.1399C>T (SPECC1L) NP_001138940.3:p.Arg467Cys
NM_001145468.4:c.1399C>T (SPECC1L) NP_001138940.4:p.Arg467Cys
NM_001254732.2:c.1399C>T (SPECC1L) NP_001241661.2:p.Arg467Cys
NM_001254732.3:c.1399C>T (SPECC1L) NP_001241661.3:p.Arg467Cys
NM_015330.4:c.1399C>T (SPECC1L) NP_056145.4:p.Arg467Cys
NM_015330.5:c.1399C>T (SPECC1L) NP_056145.4:p.Arg467Cys
NR_103546.1:n.1707C>T (SPECC1L-ADORA2A)
ENST00000314328.13:c.1399C>T (SPECC1L) ENSP00000325785.8:p.Arg467Cys
ENST00000358654.2:c.1399C>T (SPECC1L-ADORA2A) ENSP00000351480.2:p.Arg467Cys
ENST00000416735.5:n.481+1056C>T (SPECC1L)
ENST00000421374.5:c.1399C>T (SPECC1L) ENSP00000405671.1:p.Arg467Cys
ENST00000437398.5:c.1399C>T (SPECC1L) ENSP00000393363.1:p.Arg467Cys
ENST00000541492.1:c.1399C>T (SPECC1L) ENSP00000439633.1:p.Arg467Cys
ENST00000651059.1:c.1456C>T (SPECC1L) ENSP00000499052.1:p.Arg486Cys