Canonical Allele Identifier: CA395951540

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368706G>T (hg19) ; chr16:g.56334794G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334794G>T , CM000678.2:g.56334794G>T	GRCh38
NC_000016.9:g.56368706G>T , CM000678.1:g.56368706G>T	GRCh37
NC_000016.8:g.54926207G>T	NCBI36
NG_042800.1:g.148456G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.530G>T	ENSP00000262494.7:p.Arg177Leu
ENST00000262493.12:c.530G>T MANE Select	ENSP00000262493.6:p.Arg177Leu
ENST00000262494.12:c.530G>T	ENSP00000262494.7:p.Arg177Leu
ENST00000562316.6:c.197G>T	ENSP00000457238.2:p.Arg66Leu
ENST00000638185.1:n.745G>T
ENST00000638210.1:n.830G>T
ENST00000638705.1:c.530G>T	ENSP00000491223.1:p.Arg177Leu
ENST00000638836.1:n.440G>T
ENST00000639055.1:n.1251G>T
ENST00000639251.1:n.431G>T
ENST00000639268.1:c.229-1937G>T
ENST00000639341.1:c.55G>T
ENST00000639770.1:c.568G>T	ENSP00000491999.1:n.568G>T
ENST00000640390.1:n.460G>T
ENST00000640893.1:c.369G>T	ENSP00000492677.1:p.Pro123=
ENST00000262493.10:c.530G>T	ENSP00000262493.6:p.Arg177Leu
ENST00000262494.11:c.530G>T	ENSP00000262494.7:p.Arg177Leu
ENST00000562316.5:c.269G>T	ENSP00000457238.1:p.Arg90Leu
NM_020988.2:c.530G>T	NP_066268.1:p.Arg177Leu
NM_138736.2:c.530G>T	NP_620073.2:p.Arg177Leu
XM_011523003.1:c.404G>T	XP_011521305.1:p.Arg135Leu
XM_011523003.3:c.404G>T	XP_011521305.1:p.Arg135Leu
NM_020988.3:c.530G>T MANE Select	NP_066268.1:p.Arg177Leu
NM_138736.3:c.530G>T	NP_620073.2:p.Arg177Leu