Canonical Allele Identifier: CA395952384

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370753T>C (hg19) ; chr16:g.56336841T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336841T>C , CM000678.2:g.56336841T>C	GRCh38
NC_000016.9:g.56370753T>C , CM000678.1:g.56370753T>C	GRCh37
NC_000016.8:g.54928254T>C	NCBI36
NG_042800.1:g.150503T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.704T>C	ENSP00000262494.7:p.Leu235Pro
ENST00000262493.12:c.704T>C MANE Select	ENSP00000262493.6:p.Leu235Pro
ENST00000262494.12:c.704T>C	ENSP00000262494.7:p.Leu235Pro
ENST00000562316.6:c.371T>C	ENSP00000457238.2:p.Leu124Pro
ENST00000564727.2:c.8T>C	ENSP00000454971.2:p.Leu3Pro
ENST00000568375.2:c.96T>C
ENST00000638185.1:n.919T>C
ENST00000638210.1:n.1004T>C
ENST00000638705.1:c.704T>C	ENSP00000491223.1:p.Leu235Pro
ENST00000638836.1:n.614T>C
ENST00000639055.1:n.1425T>C
ENST00000639251.1:n.605T>C
ENST00000639268.1:c.339T>C
ENST00000639341.1:c.229T>C
ENST00000639770.1:c.742T>C	ENSP00000491999.1:n.742T>C
ENST00000640390.1:n.634T>C
ENST00000640469.1:c.68T>C	ENSP00000491875.1:p.Leu23Pro
ENST00000640560.1:n.480T>C
ENST00000640893.1:c.*102T>C	ENSP00000492677.1:n.*102T>C
ENST00000262493.10:c.704T>C	ENSP00000262493.6:p.Leu235Pro
ENST00000262494.11:c.704T>C	ENSP00000262494.7:p.Leu235Pro
ENST00000568375.1:n.96T>C
NM_020988.2:c.704T>C	NP_066268.1:p.Leu235Pro
NM_138736.2:c.704T>C	NP_620073.2:p.Leu235Pro
XM_011523003.1:c.578T>C	XP_011521305.1:p.Leu193Pro
XM_011523003.3:c.578T>C	XP_011521305.1:p.Leu193Pro
NM_020988.3:c.704T>C MANE Select	NP_066268.1:p.Leu235Pro
NM_138736.3:c.704T>C	NP_620073.2:p.Leu235Pro