Canonical Allele Identifier: CA395952376

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370749G>T (hg19) ; chr16:g.56336837G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336837G>T , CM000678.2:g.56336837G>T	GRCh38
NC_000016.9:g.56370749G>T , CM000678.1:g.56370749G>T	GRCh37
NC_000016.8:g.54928250G>T	NCBI36
NG_042800.1:g.150499G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.700G>T	ENSP00000262494.7:p.Val234Leu
ENST00000262493.12:c.700G>T MANE Select	ENSP00000262493.6:p.Val234Leu
ENST00000262494.12:c.700G>T	ENSP00000262494.7:p.Val234Leu
ENST00000562316.6:c.367G>T	ENSP00000457238.2:p.Val123Leu
ENST00000564727.2:c.4G>T	ENSP00000454971.2:p.Val2Leu
ENST00000568375.2:c.92G>T
ENST00000638185.1:n.915G>T
ENST00000638210.1:n.1000G>T
ENST00000638705.1:c.700G>T	ENSP00000491223.1:p.Val234Leu
ENST00000638836.1:n.610G>T
ENST00000639055.1:n.1421G>T
ENST00000639251.1:n.601G>T
ENST00000639268.1:c.335G>T
ENST00000639341.1:c.225G>T
ENST00000639770.1:c.738G>T	ENSP00000491999.1:n.738G>T
ENST00000640390.1:n.630G>T
ENST00000640469.1:c.64G>T	ENSP00000491875.1:p.Val22Leu
ENST00000640560.1:n.476G>T
ENST00000640893.1:c.*98G>T	ENSP00000492677.1:n.*98G>T
ENST00000262493.10:c.700G>T	ENSP00000262493.6:p.Val234Leu
ENST00000262494.11:c.700G>T	ENSP00000262494.7:p.Val234Leu
ENST00000568375.1:n.92G>T
NM_020988.2:c.700G>T	NP_066268.1:p.Val234Leu
NM_138736.2:c.700G>T	NP_620073.2:p.Val234Leu
XM_011523003.1:c.574G>T	XP_011521305.1:p.Val192Leu
XM_011523003.3:c.574G>T	XP_011521305.1:p.Val192Leu
NM_020988.3:c.700G>T MANE Select	NP_066268.1:p.Val234Leu
NM_138736.3:c.700G>T	NP_620073.2:p.Val234Leu