Canonical Allele Identifier: CA10634153

Gene: SPART

Linked Data

• ClinVar Variation Id: 311748
• ClinVar RCV Id: RCV000354780
• dbSNP Id: rs886050133
• gnomAD v3: 13-36302815-T-C
• gnomAD v4: 13-36302815-T-C
• MyVariant Identifiers: chr13:g.36876952T>C (hg19) ; chr13:g.36302815T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36302815T>C , CM000675.2:g.36302815T>C	GRCh38
NC_000013.10:g.36876952T>C , CM000675.1:g.36876952T>C	GRCh37
NC_000013.9:g.35774952T>C	NCBI36
NG_011559.1:g.72366A>G
NG_011559.2:g.72366A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438666.7:c.*1550A>G MANE Select	ENSP00000406061.2:n.*1550A>G
ENST00000650221.1:c.*1550A>G	ENSP00000497209.1:n.*1550A>G
ENST00000355182.8:c.*1550A>G	ENSP00000347314.4:n.*1550A>G
ENST00000438666.6:c.*1550A>G	ENSP00000406061.2:n.*1550A>G
ENST00000451493.5:c.*1550A>G	ENSP00000414147.1:n.*1550A>G
NM_001142294.1:c.*1550A>G	NP_001135766.1:n.*1550A>G
NM_001142295.1:c.*1550A>G	NP_001135767.1:n.*1550A>G
NM_001142296.1:c.*1550A>G	NP_001135768.1:n.*1550A>G
NM_015087.4:c.*1550A>G	NP_055902.1:n.*1550A>G
XM_005266313.5:c.*1550A>G	XP_005266370.1:n.*1550A>G
XM_005266314.3:c.*1550A>G	XP_005266371.1:n.*1550A>G
XM_005266315.3:c.*1550A>G	XP_005266372.1:n.*1550A>G
XM_005266317.3:c.*1550A>G	XP_005266374.1:n.*1550A>G
XM_011535012.2:c.*1550A>G	XP_011533314.1:n.*1550A>G
XM_024449334.1:c.*1550A>G	XP_024305102.1:n.*1550A>G
XR_001749523.2:n.3894A>G
NM_015087.5:c.*1550A>G MANE Select	NP_055902.1:n.*1550A>G
NM_001142296.2:c.*1550A>G	NP_001135768.1:n.*1550A>G
NM_001142294.2:c.*1550A>G	NP_001135766.1:n.*1550A>G
NM_001142295.2:c.*1550A>G	NP_001135767.1:n.*1550A>G