Canonical Allele Identifier: CA10639362

Gene: SPART SPART-AS1

Linked Data

• ClinVar Variation Id: 311777
• ClinVar RCV Id: RCV000281619
• dbSNP Id: rs886050139
• gnomAD v2: 13-36920620-A-C
• gnomAD v3: 13-36346483-A-C
• gnomAD v4: 13-36346483-A-C
• MyVariant Identifiers: chr13:g.36920620A>C (hg19) ; chr13:g.36346483A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36346483A>C , CM000675.2:g.36346483A>C	GRCh38
NC_000013.10:g.36920620A>C , CM000675.1:g.36920620A>C	GRCh37
NC_000013.9:g.35818620A>C	NCBI36
NG_011559.1:g.28698T>G
NG_011559.2:g.28698T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650221.1:c.-2-10651T>G (SPART)	ENSP00000497209.1:n.-2-10651T>G
ENST00000355182.8:c.-2-10651T>G (SPART)	ENSP00000347314.4:n.-2-10651T>G
ENST00000451493.5:c.-3+99T>G (SPART)	ENSP00000414147.1:n.-3+99T>G
ENST00000494062.2:c.-244T>G (SPART)	ENSP00000473599.1:n.-244T>G
ENST00000494703.1:n.196+99T>G (SPART)
NM_001142294.1:c.-2-10651T>G (SPART)	NP_001135766.1:n.-2-10651T>G
NM_001142295.1:c.-3+99T>G (SPART)	NP_001135767.1:n.-3+99T>G
NM_001142296.1:c.-244T>G (SPART)	NP_001135768.1:n.-244T>G
NM_015087.4:c.-261T>G (SPART)	NP_055902.1:n.-261T>G
NR_045180.1:n.53A>C (SPART-AS1)
NR_045181.1:n.53A>C (SPART-AS1)
XM_005266314.2:c.-75+99T>G (SPART)	XP_005266371.1:n.-75+99T>G
XM_005266316.2:c.-74-10125T>G (SPART)	XP_005266373.1:n.-74-10125T>G
XM_011535012.1:c.-172T>G (SPART)	XP_011533314.1:n.-172T>G
XR_941540.1:n.2T>G (SPART)
XM_005266314.3:c.-75+99T>G (SPART)	XP_005266371.1:n.-75+99T>G
XM_011535012.2:c.-172T>G (SPART)	XP_011533314.1:n.-172T>G
XM_024449334.1:c.-333T>G (SPART)	XP_024305102.1:n.-333T>G
NM_001142294.2:c.-2-10651T>G (SPART)	NP_001135766.1:n.-2-10651T>G
NM_001142295.2:c.-3+99T>G (SPART)	NP_001135767.1:n.-3+99T>G