Canonical Allele Identifier: CA370147589

Gene: RNF32 LMBR1

Linked Data

• ClinVar Variation Id: 3155404
• ClinVar RCV Id: RCV004446733
• MyVariant Identifiers: chr7:g.156468508A>T (hg19) ; chr7:g.156675814A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.156675814A>T , CM000669.2:g.156675814A>T	GRCh38
NC_000007.13:g.156468508A>T , CM000669.1:g.156468508A>T	GRCh37
NC_000007.12:g.156161269A>T	NCBI36
NG_009240.2:g.222395T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317955.10:c.803A>T (RNF32) MANE Select	ENSP00000315950.5:p.Lys268Ile
ENST00000311822.12:c.803A>T (RNF32)	ENSP00000308894.8:p.Lys268Ile
ENST00000317955.9:c.803A>T (RNF32)	ENSP00000315950.5:p.Lys268Ile
ENST00000392743.6:c.803A>T (RNF32)	ENSP00000376499.2:p.Lys268Ile
ENST00000392747.6:c.*622A>T (RNF32)	ENSP00000376503.2:n.*622A>T
ENST00000405335.5:c.803A>T (RNF32)	ENSP00000385285.1:p.Lys268Ile
ENST00000430825.3:n.866+572T>A (LMBR1)
ENST00000432459.6:c.803A>T (RNF32)	ENSP00000405588.2:p.Lys268Ile
NM_001184996.1:c.803A>T (RNF32)	NP_001171925.1:p.Lys268Ile
NM_001184997.1:c.803A>T (RNF32)	NP_001171926.1:p.Lys268Ile
NM_001308273.1:c.803A>T (RNF32)	NP_001295202.1:p.Lys268Ile
NM_030936.3:c.803A>T (RNF32)	NP_112198.1:p.Lys268Ile
NR_131778.1:n.987A>T (RNF32)
XM_005249522.3:c.803A>T (RNF32)	XP_005249579.1:p.Lys268Ile
XM_011515804.1:c.803A>T (RNF32)	XP_011514106.1:p.Lys268Ile
XM_011515805.1:c.803A>T (RNF32)	XP_011514107.1:p.Lys268Ile
XM_011515806.1:c.803A>T (RNF32)	XP_011514108.1:p.Lys268Ile
XM_011515807.1:c.803A>T (RNF32)	XP_011514109.1:p.Lys268Ile
XM_011515808.1:c.803A>T (RNF32)	XP_011514110.1:p.Lys268Ile
XM_011515809.1:c.803A>T (RNF32)	XP_011514111.1:p.Lys268Ile
XM_011515810.1:c.803A>T (RNF32)	XP_011514112.1:p.Lys268Ile
XM_011515811.1:c.803A>T (RNF32)	XP_011514113.1:p.Lys268Ile
XM_011515812.1:c.803A>T (RNF32)	XP_011514114.1:p.Lys268Ile
XM_011515813.1:c.764A>T (RNF32)	XP_011514115.1:p.Lys255Ile
XR_927508.1:n.4513+572T>A (LMBR1)
NR_146959.1:n.4538+572T>A (LMBR1)
XM_005249522.5:c.803A>T (RNF32)	XP_005249579.1:p.Lys268Ile
XM_011515804.3:c.803A>T (RNF32)	XP_011514106.1:p.Lys268Ile
XM_011515805.3:c.803A>T (RNF32)	XP_011514107.1:p.Lys268Ile
XM_011515806.3:c.803A>T (RNF32)	XP_011514108.1:p.Lys268Ile
XM_011515807.3:c.803A>T (RNF32)	XP_011514109.1:p.Lys268Ile
XM_011515808.3:c.803A>T (RNF32)	XP_011514110.1:p.Lys268Ile
XM_011515809.3:c.803A>T (RNF32)	XP_011514111.1:p.Lys268Ile
XM_011515810.3:c.803A>T (RNF32)	XP_011514112.1:p.Lys268Ile
XM_011515811.3:c.803A>T (RNF32)	XP_011514113.1:p.Lys268Ile
XM_011515812.3:c.803A>T (RNF32)	XP_011514114.1:p.Lys268Ile
XM_011515813.2:c.764A>T (RNF32)	XP_011514115.1:p.Lys255Ile
XM_017011753.1:c.803A>T (RNF32)	XP_016867242.1:p.Lys268Ile
XM_017011754.1:c.803A>T (RNF32)	XP_016867243.1:p.Lys268Ile
XR_001744552.1:n.1050A>T (RNF32)
XR_001744553.1:n.950A>T (RNF32)
XR_001744847.1:n.5715T>A (LMBR1)
XR_001744848.1:n.5656T>A (LMBR1)
XR_002956477.1:n.5592T>A (LMBR1)
XR_002956478.1:n.5553T>A (LMBR1)
XR_002956479.1:n.5574T>A (LMBR1)
XR_002956480.1:n.5430T>A (LMBR1)
XR_002956481.1:n.5670T>A (LMBR1)
XR_002956482.1:n.5413T>A (LMBR1)
XR_927367.3:n.981A>T (RNF32)
NM_001308273.2:c.803A>T (RNF32)	NP_001295202.1:p.Lys268Ile
NM_001184996.2:c.803A>T (RNF32)	NP_001171925.1:p.Lys268Ile
NM_030936.4:c.803A>T (RNF32) MANE Select	NP_112198.1:p.Lys268Ile
NR_146959.2:n.4513+572T>A (LMBR1)