Canonical Allele Identifier: CA395952159

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370654T>C (hg19) ; chr16:g.56336742T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336742T>C , CM000678.2:g.56336742T>C	GRCh38
NC_000016.9:g.56370654T>C , CM000678.1:g.56370654T>C	GRCh37
NC_000016.8:g.54928155T>C	NCBI36
NG_042800.1:g.150404T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.605T>C	ENSP00000262494.7:p.Val202Ala
ENST00000262493.12:c.605T>C MANE Select	ENSP00000262493.6:p.Val202Ala
ENST00000262494.12:c.605T>C	ENSP00000262494.7:p.Val202Ala
ENST00000562316.6:c.272T>C	ENSP00000457238.2:p.Val91Ala
ENST00000638185.1:n.820T>C
ENST00000638210.1:n.905T>C
ENST00000638705.1:c.605T>C	ENSP00000491223.1:p.Val202Ala
ENST00000638836.1:n.515T>C
ENST00000639055.1:n.1326T>C
ENST00000639251.1:n.506T>C
ENST00000639268.1:c.240T>C
ENST00000639341.1:c.130T>C
ENST00000639770.1:c.643T>C	ENSP00000491999.1:n.643T>C
ENST00000640390.1:n.535T>C
ENST00000640560.1:n.381T>C
ENST00000640893.1:c.*3T>C	ENSP00000492677.1:n.*3T>C
ENST00000262493.10:c.605T>C	ENSP00000262493.6:p.Val202Ala
ENST00000262494.11:c.605T>C	ENSP00000262494.7:p.Val202Ala
NM_020988.2:c.605T>C	NP_066268.1:p.Val202Ala
NM_138736.2:c.605T>C	NP_620073.2:p.Val202Ala
XM_011523003.1:c.479T>C	XP_011521305.1:p.Val160Ala
XM_011523003.3:c.479T>C	XP_011521305.1:p.Val160Ala
NM_020988.3:c.605T>C MANE Select	NP_066268.1:p.Val202Ala
NM_138736.3:c.605T>C	NP_620073.2:p.Val202Ala