Canonical Allele Identifier: CA395951648

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368732G>C (hg19) ; chr16:g.56334820G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334820G>C , CM000678.2:g.56334820G>C	GRCh38
NC_000016.9:g.56368732G>C , CM000678.1:g.56368732G>C	GRCh37
NC_000016.8:g.54926233G>C	NCBI36
NG_042800.1:g.148482G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.556G>C	ENSP00000262494.7:p.Val186Leu
ENST00000262493.12:c.556G>C MANE Select	ENSP00000262493.6:p.Val186Leu
ENST00000262494.12:c.556G>C	ENSP00000262494.7:p.Val186Leu
ENST00000562316.6:c.223G>C	ENSP00000457238.2:p.Val75Leu
ENST00000638185.1:n.771G>C
ENST00000638210.1:n.856G>C
ENST00000638705.1:c.556G>C	ENSP00000491223.1:p.Val186Leu
ENST00000638836.1:n.466G>C
ENST00000639055.1:n.1277G>C
ENST00000639251.1:n.457G>C
ENST00000639268.1:c.229-1911G>C
ENST00000639341.1:c.81G>C
ENST00000639770.1:c.594G>C	ENSP00000491999.1:n.594G>C
ENST00000640390.1:n.486G>C
ENST00000640893.1:c.395G>C	ENSP00000492677.1:p.Arg132Pro
ENST00000262493.10:c.556G>C	ENSP00000262493.6:p.Val186Leu
ENST00000262494.11:c.556G>C	ENSP00000262494.7:p.Val186Leu
ENST00000562316.5:c.295G>C	ENSP00000457238.1:p.Val99Leu
NM_020988.2:c.556G>C	NP_066268.1:p.Val186Leu
NM_138736.2:c.556G>C	NP_620073.2:p.Val186Leu
XM_011523003.1:c.430G>C	XP_011521305.1:p.Val144Leu
XM_011523003.3:c.430G>C	XP_011521305.1:p.Val144Leu
NM_020988.3:c.556G>C MANE Select	NP_066268.1:p.Val186Leu
NM_138736.3:c.556G>C	NP_620073.2:p.Val186Leu