Canonical Allele Identifier: CA395952428

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56336859-C-A
• MyVariant Identifiers: chr16:g.56370771C>A (hg19) ; chr16:g.56336859C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336859C>A , CM000678.2:g.56336859C>A	GRCh38
NC_000016.9:g.56370771C>A , CM000678.1:g.56370771C>A	GRCh37
NC_000016.8:g.54928272C>A	NCBI36
NG_042800.1:g.150521C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.722C>A	ENSP00000262494.7:p.Thr241Lys
ENST00000262493.12:c.722C>A MANE Select	ENSP00000262493.6:p.Thr241Lys
ENST00000262494.12:c.722C>A	ENSP00000262494.7:p.Thr241Lys
ENST00000562316.6:c.389C>A	ENSP00000457238.2:p.Thr130Lys
ENST00000564727.2:c.26C>A	ENSP00000454971.2:p.Thr9Lys
ENST00000568375.2:c.114C>A
ENST00000638185.1:n.937C>A
ENST00000638210.1:n.1022C>A
ENST00000638705.1:c.722C>A	ENSP00000491223.1:p.Thr241Lys
ENST00000638836.1:n.632C>A
ENST00000639055.1:n.1443C>A
ENST00000639251.1:n.623C>A
ENST00000639268.1:c.357C>A
ENST00000639341.1:c.247C>A
ENST00000639770.1:c.760C>A	ENSP00000491999.1:n.760C>A
ENST00000640390.1:n.652C>A
ENST00000640469.1:c.86C>A	ENSP00000491875.1:p.Thr29Lys
ENST00000640560.1:n.498C>A
ENST00000640893.1:c.*120C>A	ENSP00000492677.1:n.*120C>A
ENST00000262493.10:c.722C>A	ENSP00000262493.6:p.Thr241Lys
ENST00000262494.11:c.722C>A	ENSP00000262494.7:p.Thr241Lys
ENST00000568375.1:n.114C>A
NM_020988.2:c.722C>A	NP_066268.1:p.Thr241Lys
NM_138736.2:c.722C>A	NP_620073.2:p.Thr241Lys
XM_011523003.1:c.596C>A	XP_011521305.1:p.Thr199Lys
XM_011523003.3:c.596C>A	XP_011521305.1:p.Thr199Lys
NM_020988.3:c.722C>A MANE Select	NP_066268.1:p.Thr241Lys
NM_138736.3:c.722C>A	NP_620073.2:p.Thr241Lys