Canonical Allele Identifier: CA6949398

Gene: SPART

Linked Data

• ClinVar Variation Id: 311767
• ClinVar RCV Id: RCV000358136 ; RCV000713447
• dbSNP Id: rs142482393
• ExAC: 13:36888433 C / A
• gnomAD v2: 13-36888433-C-A
• gnomAD v3: 13-36314296-C-A
• gnomAD v4: 13-36314296-C-A
• MyVariant Identifiers: chr13:g.36888433C>A (hg19) ; chr13:g.36314296C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36314296C>A , CM000675.2:g.36314296C>A	GRCh38
NC_000013.10:g.36888433C>A , CM000675.1:g.36888433C>A	GRCh37
NC_000013.9:g.35786433C>A	NCBI36
NG_011559.1:g.60885G>T
NG_011559.2:g.60885G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438666.7:c.1414G>T MANE Select	ENSP00000406061.2:p.Ala472Ser
ENST00000650221.1:c.1414G>T	ENSP00000497209.1:p.Ala472Ser
ENST00000355182.8:c.1414G>T	ENSP00000347314.4:p.Ala472Ser
ENST00000438666.6:c.1414G>T	ENSP00000406061.2:p.Ala472Ser
ENST00000451493.5:c.1414G>T	ENSP00000414147.1:p.Ala472Ser
ENST00000475603.5:n.175G>T
ENST00000482146.1:n.146G>T
ENST00000494062.2:c.1414G>T	ENSP00000473599.1:p.Ala472Ser
NM_001142294.1:c.1414G>T	NP_001135766.1:p.Ala472Ser
NM_001142295.1:c.1414G>T	NP_001135767.1:p.Ala472Ser
NM_001142296.1:c.1414G>T	NP_001135768.1:p.Ala472Ser
NM_015087.4:c.1414G>T	NP_055902.1:p.Ala472Ser
XM_005266313.3:c.1414G>T	XP_005266370.1:p.Ala472Ser
XM_005266314.2:c.1414G>T	XP_005266371.1:p.Ala472Ser
XM_005266315.2:c.1414G>T	XP_005266372.1:p.Ala472Ser
XM_005266316.2:c.1414G>T	XP_005266373.1:p.Ala472Ser
XM_005266317.2:c.1414G>T	XP_005266374.1:p.Ala472Ser
XM_011535012.1:c.1414G>T	XP_011533314.1:p.Ala472Ser
XR_941540.1:n.1676G>T
XM_005266313.5:c.1414G>T	XP_005266370.1:p.Ala472Ser
XM_005266314.3:c.1414G>T	XP_005266371.1:p.Ala472Ser
XM_005266315.3:c.1414G>T	XP_005266372.1:p.Ala472Ser
XM_005266317.3:c.1414G>T	XP_005266374.1:p.Ala472Ser
XM_011535012.2:c.1414G>T	XP_011533314.1:p.Ala472Ser
XM_024449334.1:c.1414G>T	XP_024305102.1:p.Ala472Ser
XR_001749523.2:n.1642G>T
NM_015087.5:c.1414G>T MANE Select	NP_055902.1:p.Ala472Ser
NM_001142296.2:c.1414G>T	NP_001135768.1:p.Ala472Ser
NM_001142294.2:c.1414G>T	NP_001135766.1:p.Ala472Ser
NM_001142295.2:c.1414G>T	NP_001135767.1:p.Ala472Ser