Canonical Allele Identifier: CA8539355

Gene: NR1D1 THRA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40093196G>A , CM000679.2:g.40093196G>A	GRCh38
NC_000017.10:g.38249449G>A , CM000679.1:g.38249449G>A	GRCh37
NC_000017.9:g.35502975G>A	NCBI36
NG_023345.1:g.36004G>A
NG_033084.1:g.12530C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021724.5:c.1732C>T (NR1D1) MANE Select	NP_068370.1:p.Arg578Trp
ENST00000246672.4:c.1732C>T (NR1D1) MANE Select	ENSP00000246672.3:p.Arg578Trp
NM_001190918.1:c.1170G>A (THRA)	NP_001177847.1:p.Pro390=
NM_001190918.2:c.1170G>A (THRA)	NP_001177847.1:p.Pro390=
NM_001190919.1:c.1287G>A (THRA)	NP_001177848.1:p.Pro429=
NM_001190919.2:c.1287G>A (THRA)	NP_001177848.1:p.Pro429=
NM_003250.5:c.1287G>A (THRA)	NP_003241.2:p.Pro429=
NM_003250.6:c.1287G>A (THRA)	NP_003241.2:p.Pro429=
NM_021724.4:c.1732C>T (NR1D1)	NP_068370.1:p.Arg578Trp
ENST00000246672.3:c.1732C>T (NR1D1)	ENSP00000246672.3:p.Arg578Trp
ENST00000264637.8:c.1287G>A (THRA)	ENSP00000264637.4:p.Pro429=
ENST00000394121.8:c.1287G>A (THRA)	ENSP00000377679.4:p.Pro429=
ENST00000584985.5:c.1170G>A (THRA)	ENSP00000463466.1:p.Pro390=