Canonical Allele Identifier: CA395952323

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56336813-G-T
• MyVariant Identifiers: chr16:g.56370725G>T (hg19) ; chr16:g.56336813G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336813G>T , CM000678.2:g.56336813G>T	GRCh38
NC_000016.9:g.56370725G>T , CM000678.1:g.56370725G>T	GRCh37
NC_000016.8:g.54928226G>T	NCBI36
NG_042800.1:g.150475G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.676G>T	ENSP00000262494.7:p.Val226Phe
ENST00000262493.12:c.676G>T MANE Select	ENSP00000262493.6:p.Val226Phe
ENST00000262494.12:c.676G>T	ENSP00000262494.7:p.Val226Phe
ENST00000562316.6:c.343G>T	ENSP00000457238.2:p.Val115Phe
ENST00000568375.2:c.68G>T
ENST00000638185.1:n.891G>T
ENST00000638210.1:n.976G>T
ENST00000638705.1:c.676G>T	ENSP00000491223.1:p.Val226Phe
ENST00000638836.1:n.586G>T
ENST00000639055.1:n.1397G>T
ENST00000639251.1:n.577G>T
ENST00000639268.1:c.311G>T
ENST00000639341.1:c.201G>T
ENST00000639770.1:c.714G>T	ENSP00000491999.1:n.714G>T
ENST00000640390.1:n.606G>T
ENST00000640469.1:c.40G>T	ENSP00000491875.1:p.Val14Phe
ENST00000640560.1:n.452G>T
ENST00000640893.1:c.*74G>T	ENSP00000492677.1:n.*74G>T
ENST00000262493.10:c.676G>T	ENSP00000262493.6:p.Val226Phe
ENST00000262494.11:c.676G>T	ENSP00000262494.7:p.Val226Phe
ENST00000568375.1:n.68G>T
NM_020988.2:c.676G>T	NP_066268.1:p.Val226Phe
NM_138736.2:c.676G>T	NP_620073.2:p.Val226Phe
XM_011523003.1:c.550G>T	XP_011521305.1:p.Val184Phe
XM_011523003.3:c.550G>T	XP_011521305.1:p.Val184Phe
NM_020988.3:c.676G>T MANE Select	NP_066268.1:p.Val226Phe
NM_138736.3:c.676G>T	NP_620073.2:p.Val226Phe