Canonical Allele Identifier: CA395954693

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385345A>C (hg19) ; chr16:g.56351433A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351433A>C , CM000678.2:g.56351433A>C	GRCh38
NC_000016.9:g.56385345A>C , CM000678.1:g.56385345A>C	GRCh37
NC_000016.8:g.54942846A>C	NCBI36
NG_042800.1:g.165095A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.773A>C MANE Select	ENSP00000262493.6:p.Lys258Thr
ENST00000562316.6:c.440A>C	ENSP00000457238.2:p.Lys147Thr
ENST00000564727.2:c.77A>C	ENSP00000454971.2:p.Lys26Thr
ENST00000568375.2:c.116-3433A>C
ENST00000638185.1:n.988A>C
ENST00000638210.1:n.1073A>C
ENST00000638705.1:c.773A>C	ENSP00000491223.1:p.Lys258Thr
ENST00000638836.1:n.683A>C
ENST00000639055.1:n.1494A>C
ENST00000639251.1:n.674A>C
ENST00000639268.1:c.408A>C
ENST00000639341.1:c.298A>C
ENST00000639770.1:c.811A>C	ENSP00000491999.1:n.811A>C
ENST00000640390.1:n.703A>C
ENST00000640469.1:c.137A>C	ENSP00000491875.1:p.Lys46Thr
ENST00000640560.1:n.549A>C
ENST00000640893.1:c.*171A>C	ENSP00000492677.1:n.*171A>C
ENST00000262493.10:c.773A>C	ENSP00000262493.6:p.Lys258Thr
ENST00000568375.1:n.116-3433A>C
NM_020988.2:c.773A>C	NP_066268.1:p.Lys258Thr
XM_011523003.1:c.647A>C	XP_011521305.1:p.Lys216Thr
XM_011523003.3:c.647A>C	XP_011521305.1:p.Lys216Thr
NM_020988.3:c.773A>C MANE Select	NP_066268.1:p.Lys258Thr