Canonical Allele Identifier: CA135990

Gene: HRAS LRRC56

Linked Data

• ClinVar Variation Id: 40446
• ClinVar RCV Id: RCV001538584 ; RCV001813238 ; RCV002257372 ; RCV002336104
• dbSNP Id: rs140060409
• ExAC: 11:532729 C / T
• gnomAD v2: 11-532729-C-T
• gnomAD v3: 11-532729-C-T
• gnomAD v4: 11-532729-C-T
• MyVariant Identifiers: chr11:g.532729C>T (hg19) ; chr11:g.532729C>T (hg38)
• ERepo: CA135990/MONDO:0021060/004

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.532729C>T , CM000673.2:g.532729C>T	GRCh38
NC_000011.9:g.532729C>T , CM000673.1:g.532729C>T	GRCh37
NC_000011.8:g.522729C>T	NCBI36
NG_007666.1:g.7822G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000397594.7:c.*20-99G>A (HRAS)	ENSP00000380722.3:n.*20-99G>A
ENST00000417302.7:c.*46G>A (HRAS) MANE Plus Clinical	ENSP00000388246.1:n.*46G>A
ENST00000397594.6:c.251-99G>A (HRAS)	ENSP00000380722.2:n.251-99G>A
ENST00000417302.6:c.*46G>A (HRAS)	ENSP00000388246.1:n.*46G>A
ENST00000462734.2:c.*89G>A (HRAS)	ENSP00000507303.1:n.*89G>A
ENST00000311189.8:c.477G>A (HRAS) MANE Select	ENSP00000309845.7:p.Leu159=
ENST00000311189.7:c.477G>A (HRAS)	ENSP00000309845.7:p.Leu159=
ENST00000397594.5:c.*46G>A (HRAS)	ENSP00000380722.1:n.*46G>A
ENST00000397596.6:c.477G>A (HRAS)	ENSP00000380723.2:p.Leu159=
ENST00000417302.5:c.*46G>A (HRAS)	ENSP00000388246.1:n.*46G>A
ENST00000451590.5:c.477G>A (HRAS)	ENSP00000407586.1:p.Leu159=
ENST00000462734.1:n.252G>A (HRAS)
ENST00000478324.5:n.243-99G>A (HRAS)
ENST00000479482.1:n.398G>A (HRAS)
ENST00000493230.5:c.*46G>A (HRAS)	ENSP00000434023.1:n.*46G>A
NM_001130442.1:c.477G>A (HRAS)	NP_001123914.1:p.Leu159=
NM_005343.2:c.477G>A (HRAS)	NP_005334.1:p.Leu159=
NM_176795.3:c.*46G>A (HRAS)	NP_789765.1:n.*46G>A
XM_011519875.1:c.-425+4392C>T (LRRC56)	XP_011518177.1:n.-425+4392C>T
XM_011519877.1:c.-162+4392C>T (LRRC56)	XP_011518179.1:n.-162+4392C>T
XR_242795.1:n.758G>A (HRAS)
NM_001130442.2:c.477G>A (HRAS)	NP_001123914.1:p.Leu159=
NM_001318054.1:c.240G>A (HRAS)	NP_001304983.1:p.Leu80=
NM_005343.3:c.477G>A (HRAS)	NP_005334.1:p.Leu159=
NM_176795.4:c.*46G>A (HRAS)	NP_789765.1:n.*46G>A
XM_011519875.2:c.-425+4392C>T (LRRC56)	XP_011518177.1:n.-425+4392C>T
XM_011519877.2:c.-162+4392C>T (LRRC56)	XP_011518179.1:n.-162+4392C>T
XM_017017167.1:c.-500+4392C>T (LRRC56)	XP_016872656.1:n.-500+4392C>T
XM_017017168.1:c.-500+4392C>T (LRRC56)	XP_016872657.1:n.-500+4392C>T
NM_005343.4:c.477G>A (HRAS) MANE Select	NP_005334.1:p.Leu159=
NM_001318054.2:c.240G>A (HRAS)	NP_001304983.1:p.Leu80=
NM_001130442.3:c.477G>A (HRAS)	NP_001123914.1:p.Leu159=
NM_176795.5:c.*46G>A (HRAS) MANE Plus Clinical	NP_789765.1:n.*46G>A