Canonical Allele Identifier: CA10634173

Gene: SPART SPART-AS1

Linked Data

• ClinVar Variation Id: 311776
• ClinVar RCV Id: RCV000371465 ; RCV002051838
• dbSNP Id: rs2281864
• gnomAD v2: 13-36920612-C-T
• gnomAD v3: 13-36346475-C-T
• gnomAD v4: 13-36346475-C-T
• MyVariant Identifiers: chr13:g.36920612C>T (hg19) ; chr13:g.36346475C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36346475C>T , CM000675.2:g.36346475C>T	GRCh38
NC_000013.10:g.36920612C>T , CM000675.1:g.36920612C>T	GRCh37
NC_000013.9:g.35818612C>T	NCBI36
NG_011559.1:g.28706G>A
NG_011559.2:g.28706G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650221.1:c.-2-10643G>A (SPART)	ENSP00000497209.1:n.-2-10643G>A
ENST00000355182.8:c.-2-10643G>A (SPART)	ENSP00000347314.4:n.-2-10643G>A
ENST00000451493.5:c.-3+107G>A (SPART)	ENSP00000414147.1:n.-3+107G>A
ENST00000494062.2:c.-236G>A (SPART)	ENSP00000473599.1:n.-236G>A
ENST00000494703.1:n.196+107G>A (SPART)
NM_001142294.1:c.-2-10643G>A (SPART)	NP_001135766.1:n.-2-10643G>A
NM_001142295.1:c.-3+107G>A (SPART)	NP_001135767.1:n.-3+107G>A
NM_001142296.1:c.-236G>A (SPART)	NP_001135768.1:n.-236G>A
NM_015087.4:c.-253G>A (SPART)	NP_055902.1:n.-253G>A
NR_045180.1:n.45C>T (SPART-AS1)
NR_045181.1:n.45C>T (SPART-AS1)
XM_005266314.2:c.-75+107G>A (SPART)	XP_005266371.1:n.-75+107G>A
XM_005266316.2:c.-74-10117G>A (SPART)	XP_005266373.1:n.-74-10117G>A
XM_011535012.1:c.-164G>A (SPART)	XP_011533314.1:n.-164G>A
XR_941540.1:n.10G>A (SPART)
XM_005266314.3:c.-75+107G>A (SPART)	XP_005266371.1:n.-75+107G>A
XM_011535012.2:c.-164G>A (SPART)	XP_011533314.1:n.-164G>A
XM_024449334.1:c.-325G>A (SPART)	XP_024305102.1:n.-325G>A
NM_001142294.2:c.-2-10643G>A (SPART)	NP_001135766.1:n.-2-10643G>A
NM_001142295.2:c.-3+107G>A (SPART)	NP_001135767.1:n.-3+107G>A