Canonical Allele Identifier: CA4643635

Gene: VPS37A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17286390C>T , CM000670.2:g.17286390C>T	GRCh38
NC_000008.10:g.17143899C>T , CM000670.1:g.17143899C>T	GRCh37
NC_000008.9:g.17188270C>T	NCBI36
NG_032996.1:g.44499C>T
NG_032996.2:g.44499C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152415.3:c.1157C>T MANE Select	NP_689628.2:p.Ala386Val
ENST00000324849.9:c.1157C>T MANE Select	ENSP00000318629.4:p.Ala386Val
NM_001145152.1:c.1082C>T	NP_001138624.1:p.Ala361Val
NM_001145152.2:c.1082C>T	NP_001138624.1:p.Ala361Val
NM_001363167.1:c.1139C>T	NP_001350096.1:p.Ala380Val
NM_001363168.1:c.887C>T	NP_001350097.1:p.Ala296Val
NM_001363169.1:c.887C>T	NP_001350098.1:p.Ala296Val
NM_001363170.1:c.869C>T	NP_001350099.1:p.Ala290Val
NM_001363171.1:c.869C>T	NP_001350100.1:p.Ala290Val
NM_001363172.1:c.869C>T	NP_001350101.1:p.Ala290Val
NM_001363172.2:c.869C>T	NP_001350101.1:p.Ala290Val
NM_001363173.1:c.1157C>T	NP_001350102.1:p.Ala386Val
NM_001363173.2:c.1157C>T	NP_001350102.1:p.Ala386Val
NM_152415.2:c.1157C>T	NP_689628.2:p.Ala386Val
ENST00000324849.8:c.1157C>T	ENSP00000318629.4:p.Ala386Val
ENST00000425020.6:c.*704C>T	ENSP00000412824.2:n.*704C>T
ENST00000520140.5:c.*509C>T	ENSP00000428823.1:n.*509C>T
ENST00000521829.5:c.1082C>T	ENSP00000429680.1:p.Ala361Val
ENST00000521976.1:c.476C>T	ENSP00000429858.1:p.Ala159Val
XM_005273400.2:c.887C>T	XP_005273457.1:p.Ala296Val
XM_005273401.2:c.887C>T	XP_005273458.1:p.Ala296Val
XM_006716286.1:c.1139C>T	XP_006716349.1:p.Ala380Val
XM_017013021.2:c.1157C>T	XP_016868510.1:p.Ala386Val
XR_002956593.1:n.3205C>T
XR_002956594.1:n.1406C>T
XR_002956595.1:n.1552C>T
XR_002956596.1:n.1502C>T
XR_002956597.1:n.1448C>T
XR_002956598.1:n.1558C>T
XR_002956599.1:n.516C>T