Canonical Allele Identifier: CA401747380

Gene: ROCK1

Linked Data

• MyVariant Identifiers: chr18:g.18535147T>A (hg19) ; chr18:g.20955186T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.20955186T>A , CM000680.2:g.20955186T>A	GRCh38
NC_000018.9:g.18535147T>A , CM000680.1:g.18535147T>A	GRCh37
NC_000018.8:g.16789145T>A	NCBI36
NG_042178.2:g.161666A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000635540.2:c.*207A>T	ENSP00000489185.1:n.*207A>T
ENST00000399799.3:c.3572A>T MANE Select	ENSP00000382697.1:p.Glu1191Val
ENST00000399799.2:c.3572A>T	ENSP00000382697.1:p.Glu1191Val
ENST00000584687.1:n.282A>T
ENST00000635540.1:c.*207A>T	ENSP00000489185.1:n.*207A>T
NM_005406.2:c.3572A>T	NP_005397.1:p.Glu1191Val
XM_011526136.1:c.3650A>T	XP_011524438.1:p.Glu1217Val
XM_011526137.1:c.2183A>T	XP_011524439.1:p.Glu728Val
XM_011526137.3:c.2183A>T	XP_011524439.1:p.Glu728Val
NM_005406.3:c.3572A>T MANE Select	NP_005397.1:p.Glu1191Val