Canonical Allele Identifier: CA361868573

Gene: NR3C1

Linked Data

• dbSNP Id: rs1208097433
• gnomAD v4: 5-143281972-C-T
• COSMIC: COSM1063644
• MyVariant Identifiers: chr5:g.142661537C>T (hg19) ; chr5:g.143281972C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.143281972C>T , CM000667.2:g.143281972C>T	GRCh38
NC_000005.9:g.142661537C>T , CM000667.1:g.142661537C>T	GRCh37
NC_000005.8:g.142641730C>T	NCBI36
NG_009062.1:g.158541G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394464.7:c.2251G>A MANE Select	ENSP00000377977.2:p.Glu751Lys
ENST00000652686.1:c.2158G>A	ENSP00000498663.1:p.Glu720Lys
ENST00000231509.7:c.2254G>A	ENSP00000231509.3:p.Glu752Lys
ENST00000343796.6:c.2251G>A	ENSP00000343205.2:p.Glu751Lys
ENST00000394464.6:c.2251G>A	ENSP00000377977.2:p.Glu751Lys
ENST00000394466.6:c.2254G>A	ENSP00000377979.2:p.Glu752Lys
ENST00000415690.6:c.2181+596G>A	ENSP00000387672.2:n.2181+596G>A
ENST00000424646.6:c.2173G>A	ENSP00000405282.2:p.Glu725Lys
ENST00000503201.1:c.2251G>A	ENSP00000427672.1:p.Glu751Lys
ENST00000504572.5:c.2254G>A	ENSP00000422518.1:p.Glu752Lys
NM_000176.2:c.2251G>A	NP_000167.1:p.Glu751Lys
NM_001018074.1:c.2251G>A	NP_001018084.1:p.Glu751Lys
NM_001018075.1:c.2251G>A	NP_001018085.1:p.Glu751Lys
NM_001018076.1:c.2251G>A	NP_001018086.1:p.Glu751Lys
NM_001018077.1:c.2251G>A	NP_001018087.1:p.Glu751Lys
NM_001020825.1:c.2181+596G>A	NP_001018661.1:n.2181+596G>A
NM_001024094.1:c.2254G>A	NP_001019265.1:p.Glu752Lys
NM_001204258.1:c.2173G>A	NP_001191187.1:p.Glu725Lys
NM_001204259.1:c.1996G>A	NP_001191188.1:p.Glu666Lys
NM_001204260.1:c.1984G>A	NP_001191189.1:p.Glu662Lys
NM_001204261.1:c.1960G>A	NP_001191190.1:p.Glu654Lys
NM_001204262.1:c.1306G>A	NP_001191191.1:p.Glu436Lys
NM_001204263.1:c.1261G>A	NP_001191192.1:p.Glu421Lys
NM_001204264.1:c.1246G>A	NP_001191193.1:p.Glu416Lys
XM_005268419.2:c.2254G>A	XP_005268476.1:p.Glu752Lys
XM_005268420.3:c.2254G>A	XP_005268477.1:p.Glu752Lys
XM_005268422.2:c.2254G>A	XP_005268479.1:p.Glu752Lys
XM_005268423.2:c.2254G>A	XP_005268480.1:p.Glu752Lys
XM_011537637.1:c.1060G>A	XP_011535939.1:p.Glu354Lys
XR_944371.1:n.656-2727C>T
NR_157096.1:n.1174G>A
XM_005268419.4:c.2254G>A	XP_005268476.1:p.Glu752Lys
XM_005268420.4:c.2254G>A	XP_005268477.1:p.Glu752Lys
XM_005268422.3:c.2254G>A	XP_005268479.1:p.Glu752Lys
XM_005268423.3:c.2254G>A	XP_005268480.1:p.Glu752Lys
XM_011537637.3:c.1060G>A	XP_011535939.1:p.Glu354Lys
XM_017009397.1:c.2251G>A	XP_016864886.1:p.Glu751Lys
XM_017009398.1:c.2251G>A	XP_016864887.1:p.Glu751Lys
NM_000176.3:c.2251G>A MANE Select	NP_000167.1:p.Glu751Lys
NM_001364180.1:c.2251G>A	NP_001351109.1:p.Glu751Lys
NM_001364181.1:c.2251G>A	NP_001351110.1:p.Glu751Lys
NM_001364182.1:c.2251G>A	NP_001351111.1:p.Glu751Lys
NM_001364183.1:c.2254G>A	NP_001351112.1:p.Glu752Lys
NM_001364184.1:c.2254G>A	NP_001351113.1:p.Glu752Lys
NM_001364185.1:c.2254G>A	NP_001351114.1:p.Glu752Lys
NM_001018076.2:c.2251G>A	NP_001018086.1:p.Glu751Lys
NM_001020825.2:c.2181+596G>A	NP_001018661.1:n.2181+596G>A
NM_001024094.2:c.2254G>A	NP_001019265.1:p.Glu752Lys
NM_001204258.2:c.2173G>A	NP_001191187.1:p.Glu725Lys
NM_001204259.2:c.1996G>A	NP_001191188.1:p.Glu666Lys
NM_001204260.2:c.1984G>A	NP_001191189.1:p.Glu662Lys
NM_001204261.2:c.1960G>A	NP_001191190.1:p.Glu654Lys
NM_001204262.2:c.1306G>A	NP_001191191.1:p.Glu436Lys
NM_001204263.2:c.1261G>A	NP_001191192.1:p.Glu421Lys
NM_001204264.2:c.1246G>A	NP_001191193.1:p.Glu416Lys
NM_001364180.2:c.2251G>A	NP_001351109.1:p.Glu751Lys
NM_001364181.2:c.2251G>A	NP_001351110.1:p.Glu751Lys
NM_001364183.2:c.2254G>A	NP_001351112.1:p.Glu752Lys
NM_001364184.2:c.2254G>A	NP_001351113.1:p.Glu752Lys
NR_157096.2:n.1174G>A