Canonical Allele Identifier: CA395952300

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370716A>C (hg19) ; chr16:g.56336804A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336804A>C , CM000678.2:g.56336804A>C	GRCh38
NC_000016.9:g.56370716A>C , CM000678.1:g.56370716A>C	GRCh37
NC_000016.8:g.54928217A>C	NCBI36
NG_042800.1:g.150466A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.667A>C	ENSP00000262494.7:p.Ile223Leu
ENST00000262493.12:c.667A>C MANE Select	ENSP00000262493.6:p.Ile223Leu
ENST00000262494.12:c.667A>C	ENSP00000262494.7:p.Ile223Leu
ENST00000562316.6:c.334A>C	ENSP00000457238.2:p.Ile112Leu
ENST00000568375.2:c.59A>C
ENST00000638185.1:n.882A>C
ENST00000638210.1:n.967A>C
ENST00000638705.1:c.667A>C	ENSP00000491223.1:p.Ile223Leu
ENST00000638836.1:n.577A>C
ENST00000639055.1:n.1388A>C
ENST00000639251.1:n.568A>C
ENST00000639268.1:c.302A>C
ENST00000639341.1:c.192A>C
ENST00000639770.1:c.705A>C	ENSP00000491999.1:n.705A>C
ENST00000640390.1:n.597A>C
ENST00000640469.1:c.31A>C	ENSP00000491875.1:p.Ile11Leu
ENST00000640560.1:n.443A>C
ENST00000640893.1:c.*65A>C	ENSP00000492677.1:n.*65A>C
ENST00000262493.10:c.667A>C	ENSP00000262493.6:p.Ile223Leu
ENST00000262494.11:c.667A>C	ENSP00000262494.7:p.Ile223Leu
ENST00000568375.1:n.59A>C
NM_020988.2:c.667A>C	NP_066268.1:p.Ile223Leu
NM_138736.2:c.667A>C	NP_620073.2:p.Ile223Leu
XM_011523003.1:c.541A>C	XP_011521305.1:p.Ile181Leu
XM_011523003.3:c.541A>C	XP_011521305.1:p.Ile181Leu
NM_020988.3:c.667A>C MANE Select	NP_066268.1:p.Ile223Leu
NM_138736.3:c.667A>C	NP_620073.2:p.Ile223Leu