Canonical Allele Identifier: CA4643409

Gene: VPS37A

Linked Data

• ClinVar Variation Id: 522587
• ClinVar RCV Id: RCV000625725 ; RCV000650274 ; RCV001528188
• dbSNP Id: rs150912414
• ExAC: 8:17133963 C / A
• gnomAD v2: 8-17133963-C-A
• gnomAD v3: 8-17276454-C-A
• gnomAD v4: 8-17276454-C-A
• MyVariant Identifiers: chr8:g.17133963C>A (hg19) ; chr8:g.17276454C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17276454C>A , CM000670.2:g.17276454C>A	GRCh38
NC_000008.10:g.17133963C>A , CM000670.1:g.17133963C>A	GRCh37
NC_000008.9:g.17178334C>A	NCBI36
NG_032996.1:g.34563C>A
NG_032996.2:g.34563C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324849.9:c.700C>A MANE Select	ENSP00000318629.4:p.Leu234Ile
ENST00000324849.8:c.700C>A	ENSP00000318629.4:p.Leu234Ile
ENST00000425020.6:c.*170C>A	ENSP00000412824.2:n.*170C>A
ENST00000520140.5:c.700C>A	ENSP00000428823.1:p.Leu234Ile
ENST00000521829.5:c.625C>A	ENSP00000429680.1:p.Leu209Ile
ENST00000521976.1:c.19C>A	ENSP00000429858.1:p.Leu7Ile
NM_001145152.1:c.625C>A	NP_001138624.1:p.Leu209Ile
NM_152415.2:c.700C>A	NP_689628.2:p.Leu234Ile
XM_005273400.2:c.430C>A	XP_005273457.1:p.Leu144Ile
XM_005273401.2:c.430C>A	XP_005273458.1:p.Leu144Ile
XM_006716286.1:c.700C>A	XP_006716349.1:p.Leu234Ile
NM_001363167.1:c.700C>A	NP_001350096.1:p.Leu234Ile
NM_001363168.1:c.430C>A	NP_001350097.1:p.Leu144Ile
NM_001363169.1:c.430C>A	NP_001350098.1:p.Leu144Ile
NM_001363170.1:c.430C>A	NP_001350099.1:p.Leu144Ile
NM_001363171.1:c.430C>A	NP_001350100.1:p.Leu144Ile
NM_001363172.1:c.430C>A	NP_001350101.1:p.Leu144Ile
NM_001363173.1:c.700C>A	NP_001350102.1:p.Leu234Ile
XM_017013021.2:c.700C>A	XP_016868510.1:p.Leu234Ile
XR_002956593.1:n.1018C>A
XR_002956594.1:n.967C>A
XR_002956595.1:n.1018C>A
XR_002956596.1:n.1063C>A
XR_002956597.1:n.1009C>A
XR_002956598.1:n.1018C>A
XR_002956599.1:n.59C>A
NM_152415.3:c.700C>A MANE Select	NP_689628.2:p.Leu234Ile
NM_001363172.2:c.430C>A	NP_001350101.1:p.Leu144Ile
NM_001363173.2:c.700C>A	NP_001350102.1:p.Leu234Ile
NM_001145152.2:c.625C>A	NP_001138624.1:p.Leu209Ile