Canonical Allele Identifier: CA395952312

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370721C>A (hg19) ; chr16:g.56336809C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336809C>A , CM000678.2:g.56336809C>A	GRCh38
NC_000016.9:g.56370721C>A , CM000678.1:g.56370721C>A	GRCh37
NC_000016.8:g.54928222C>A	NCBI36
NG_042800.1:g.150471C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.672C>A	ENSP00000262494.7:p.Phe224Leu
ENST00000262493.12:c.672C>A MANE Select	ENSP00000262493.6:p.Phe224Leu
ENST00000262494.12:c.672C>A	ENSP00000262494.7:p.Phe224Leu
ENST00000562316.6:c.339C>A	ENSP00000457238.2:p.Phe113Leu
ENST00000568375.2:c.64C>A
ENST00000638185.1:n.887C>A
ENST00000638210.1:n.972C>A
ENST00000638705.1:c.672C>A	ENSP00000491223.1:p.Phe224Leu
ENST00000638836.1:n.582C>A
ENST00000639055.1:n.1393C>A
ENST00000639251.1:n.573C>A
ENST00000639268.1:c.307C>A
ENST00000639341.1:c.197C>A
ENST00000639770.1:c.710C>A	ENSP00000491999.1:n.710C>A
ENST00000640390.1:n.602C>A
ENST00000640469.1:c.36C>A	ENSP00000491875.1:p.Phe12Leu
ENST00000640560.1:n.448C>A
ENST00000640893.1:c.*70C>A	ENSP00000492677.1:n.*70C>A
ENST00000262493.10:c.672C>A	ENSP00000262493.6:p.Phe224Leu
ENST00000262494.11:c.672C>A	ENSP00000262494.7:p.Phe224Leu
ENST00000568375.1:n.64C>A
NM_020988.2:c.672C>A	NP_066268.1:p.Phe224Leu
NM_138736.2:c.672C>A	NP_620073.2:p.Phe224Leu
XM_011523003.1:c.546C>A	XP_011521305.1:p.Phe182Leu
XM_011523003.3:c.546C>A	XP_011521305.1:p.Phe182Leu
NM_020988.3:c.672C>A MANE Select	NP_066268.1:p.Phe224Leu
NM_138736.3:c.672C>A	NP_620073.2:p.Phe224Leu