Canonical Allele Identifier: CA6949485

Gene: SPART

Linked Data

• ClinVar Variation Id: 461200
• ClinVar RCV Id: RCV000528566 ; RCV001114951
• dbSNP Id: rs148672324
• ExAC: 13:36903533 T / A
• gnomAD v2: 13-36903533-T-A
• gnomAD v3: 13-36329396-T-A
• gnomAD v4: 13-36329396-T-A
• MyVariant Identifiers: chr13:g.36903533T>A (hg19) ; chr13:g.36329396T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36329396T>A , CM000675.2:g.36329396T>A	GRCh38
NC_000013.10:g.36903533T>A , CM000675.1:g.36903533T>A	GRCh37
NC_000013.9:g.35801533T>A	NCBI36
NG_011559.1:g.45785A>T
NG_011559.2:g.45785A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438666.7:c.1130A>T MANE Select	ENSP00000406061.2:p.Lys377Met
ENST00000650221.1:c.1130A>T	ENSP00000497209.1:p.Lys377Met
ENST00000355182.8:c.1130A>T	ENSP00000347314.4:p.Lys377Met
ENST00000438666.6:c.1130A>T	ENSP00000406061.2:p.Lys377Met
ENST00000451493.5:c.1130A>T	ENSP00000414147.1:p.Lys377Met
ENST00000494062.2:c.1130A>T	ENSP00000473599.1:p.Lys377Met
ENST00000495510.1:n.1191A>T
NM_001142294.1:c.1130A>T	NP_001135766.1:p.Lys377Met
NM_001142295.1:c.1130A>T	NP_001135767.1:p.Lys377Met
NM_001142296.1:c.1130A>T	NP_001135768.1:p.Lys377Met
NM_015087.4:c.1130A>T	NP_055902.1:p.Lys377Met
XM_005266313.3:c.1130A>T	XP_005266370.1:p.Lys377Met
XM_005266314.2:c.1130A>T	XP_005266371.1:p.Lys377Met
XM_005266315.2:c.1130A>T	XP_005266372.1:p.Lys377Met
XM_005266316.2:c.1130A>T	XP_005266373.1:p.Lys377Met
XM_005266317.2:c.1130A>T	XP_005266374.1:p.Lys377Met
XM_011535012.1:c.1130A>T	XP_011533314.1:p.Lys377Met
XR_941540.1:n.1392A>T
XM_005266313.5:c.1130A>T	XP_005266370.1:p.Lys377Met
XM_005266314.3:c.1130A>T	XP_005266371.1:p.Lys377Met
XM_005266315.3:c.1130A>T	XP_005266372.1:p.Lys377Met
XM_005266317.3:c.1130A>T	XP_005266374.1:p.Lys377Met
XM_011535012.2:c.1130A>T	XP_011533314.1:p.Lys377Met
XM_024449334.1:c.1130A>T	XP_024305102.1:p.Lys377Met
XR_001749523.2:n.1358A>T
NM_015087.5:c.1130A>T MANE Select	NP_055902.1:p.Lys377Met
NM_001142296.2:c.1130A>T	NP_001135768.1:p.Lys377Met
NM_001142294.2:c.1130A>T	NP_001135766.1:p.Lys377Met
NM_001142295.2:c.1130A>T	NP_001135767.1:p.Lys377Met