Canonical Allele Identifier: CA395952217

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370682G>T (hg19) ; chr16:g.56336770G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336770G>T , CM000678.2:g.56336770G>T	GRCh38
NC_000016.9:g.56370682G>T , CM000678.1:g.56370682G>T	GRCh37
NC_000016.8:g.54928183G>T	NCBI36
NG_042800.1:g.150432G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.633G>T	ENSP00000262494.7:p.Lys211Asn
ENST00000262493.12:c.633G>T MANE Select	ENSP00000262493.6:p.Lys211Asn
ENST00000262494.12:c.633G>T	ENSP00000262494.7:p.Lys211Asn
ENST00000562316.6:c.300G>T	ENSP00000457238.2:p.Lys100Asn
ENST00000568375.2:c.25G>T
ENST00000638185.1:n.848G>T
ENST00000638210.1:n.933G>T
ENST00000638705.1:c.633G>T	ENSP00000491223.1:p.Lys211Asn
ENST00000638836.1:n.543G>T
ENST00000639055.1:n.1354G>T
ENST00000639251.1:n.534G>T
ENST00000639268.1:c.268G>T
ENST00000639341.1:c.158G>T
ENST00000639770.1:c.671G>T	ENSP00000491999.1:n.671G>T
ENST00000640390.1:n.563G>T
ENST00000640560.1:n.409G>T
ENST00000640893.1:c.*31G>T	ENSP00000492677.1:n.*31G>T
ENST00000262493.10:c.633G>T	ENSP00000262493.6:p.Lys211Asn
ENST00000262494.11:c.633G>T	ENSP00000262494.7:p.Lys211Asn
ENST00000568375.1:n.25G>T
NM_020988.2:c.633G>T	NP_066268.1:p.Lys211Asn
NM_138736.2:c.633G>T	NP_620073.2:p.Lys211Asn
XM_011523003.1:c.507G>T	XP_011521305.1:p.Lys169Asn
XM_011523003.3:c.507G>T	XP_011521305.1:p.Lys169Asn
NM_020988.3:c.633G>T MANE Select	NP_066268.1:p.Lys211Asn
NM_138736.3:c.633G>T	NP_620073.2:p.Lys211Asn