Canonical Allele Identifier: CA213061

Gene: VPS37A

Linked Data

• ClinVar Variation Id: 39741
• ClinVar RCV Id: RCV000032956
• dbSNP Id: rs211694394
• MyVariant Identifiers: chr8:g.17143888A>T (hg19) ; chr8:g.17286379A>T (hg38)
• PubMed: PMID:22717650

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17286379A>T , CM000670.2:g.17286379A>T	GRCh38
NC_000008.10:g.17143888A>T , CM000670.1:g.17143888A>T	GRCh37
NC_000008.9:g.17188259A>T	NCBI36
NG_032996.1:g.44488A>T
NG_032996.2:g.44488A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324849.9:c.1146A>T MANE Select	ENSP00000318629.4:p.Lys382Asn
ENST00000324849.8:c.1146A>T	ENSP00000318629.4:p.Lys382Asn
ENST00000425020.6:c.*693A>T	ENSP00000412824.2:n.*693A>T
ENST00000520140.5:c.*498A>T	ENSP00000428823.1:n.*498A>T
ENST00000521829.5:c.1071A>T	ENSP00000429680.1:p.Lys357Asn
ENST00000521976.1:c.465A>T	ENSP00000429858.1:p.Lys155Asn
NM_001145152.1:c.1071A>T	NP_001138624.1:p.Lys357Asn
NM_152415.2:c.1146A>T	NP_689628.2:p.Lys382Asn
XM_005273400.2:c.876A>T	XP_005273457.1:p.Lys292Asn
XM_005273401.2:c.876A>T	XP_005273458.1:p.Lys292Asn
XM_006716286.1:c.1128A>T	XP_006716349.1:p.Lys376Asn
NM_001363167.1:c.1128A>T	NP_001350096.1:p.Lys376Asn
NM_001363168.1:c.876A>T	NP_001350097.1:p.Lys292Asn
NM_001363169.1:c.876A>T	NP_001350098.1:p.Lys292Asn
NM_001363170.1:c.858A>T	NP_001350099.1:p.Lys286Asn
NM_001363171.1:c.858A>T	NP_001350100.1:p.Lys286Asn
NM_001363172.1:c.858A>T	NP_001350101.1:p.Lys286Asn
NM_001363173.1:c.1146A>T	NP_001350102.1:p.Lys382Asn
XM_017013021.2:c.1146A>T	XP_016868510.1:p.Lys382Asn
XR_002956593.1:n.3194A>T
XR_002956594.1:n.1395A>T
XR_002956595.1:n.1541A>T
XR_002956596.1:n.1491A>T
XR_002956597.1:n.1437A>T
XR_002956598.1:n.1547A>T
XR_002956599.1:n.505A>T
NM_152415.3:c.1146A>T MANE Select	NP_689628.2:p.Lys382Asn
NM_001363172.2:c.858A>T	NP_001350101.1:p.Lys286Asn
NM_001363173.2:c.1146A>T	NP_001350102.1:p.Lys382Asn
NM_001145152.2:c.1071A>T	NP_001138624.1:p.Lys357Asn