Canonical Allele Identifier: CA395952229

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370686A>C (hg19) ; chr16:g.56336774A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336774A>C , CM000678.2:g.56336774A>C	GRCh38
NC_000016.9:g.56370686A>C , CM000678.1:g.56370686A>C	GRCh37
NC_000016.8:g.54928187A>C	NCBI36
NG_042800.1:g.150436A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.637A>C	ENSP00000262494.7:p.Ile213Leu
ENST00000262493.12:c.637A>C MANE Select	ENSP00000262493.6:p.Ile213Leu
ENST00000262494.12:c.637A>C	ENSP00000262494.7:p.Ile213Leu
ENST00000562316.6:c.304A>C	ENSP00000457238.2:p.Ile102Leu
ENST00000568375.2:c.29A>C
ENST00000638185.1:n.852A>C
ENST00000638210.1:n.937A>C
ENST00000638705.1:c.637A>C	ENSP00000491223.1:p.Ile213Leu
ENST00000638836.1:n.547A>C
ENST00000639055.1:n.1358A>C
ENST00000639251.1:n.538A>C
ENST00000639268.1:c.272A>C
ENST00000639341.1:c.162A>C
ENST00000639770.1:c.675A>C	ENSP00000491999.1:n.675A>C
ENST00000640390.1:n.567A>C
ENST00000640469.1:c.1A>C	ENSP00000491875.1:p.Ile1Leu
ENST00000640560.1:n.413A>C
ENST00000640893.1:c.*35A>C	ENSP00000492677.1:n.*35A>C
ENST00000262493.10:c.637A>C	ENSP00000262493.6:p.Ile213Leu
ENST00000262494.11:c.637A>C	ENSP00000262494.7:p.Ile213Leu
ENST00000568375.1:n.29A>C
NM_020988.2:c.637A>C	NP_066268.1:p.Ile213Leu
NM_138736.2:c.637A>C	NP_620073.2:p.Ile213Leu
XM_011523003.1:c.511A>C	XP_011521305.1:p.Ile171Leu
XM_011523003.3:c.511A>C	XP_011521305.1:p.Ile171Leu
NM_020988.3:c.637A>C MANE Select	NP_066268.1:p.Ile213Leu
NM_138736.3:c.637A>C	NP_620073.2:p.Ile213Leu