Canonical Allele Identifier: CA395952177

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2860706
• ClinVar RCV Id: RCV003752608
• MyVariant Identifiers: chr16:g.56370663A>T (hg19) ; chr16:g.56336751A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336751A>T , CM000678.2:g.56336751A>T	GRCh38
NC_000016.9:g.56370663A>T , CM000678.1:g.56370663A>T	GRCh37
NC_000016.8:g.54928164A>T	NCBI36
NG_042800.1:g.150413A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.614A>T	ENSP00000262494.7:p.Gln205Leu
ENST00000262493.12:c.614A>T MANE Select	ENSP00000262493.6:p.Gln205Leu
ENST00000262494.12:c.614A>T	ENSP00000262494.7:p.Gln205Leu
ENST00000562316.6:c.281A>T	ENSP00000457238.2:p.Gln94Leu
ENST00000568375.2:c.6A>T
ENST00000638185.1:n.829A>T
ENST00000638210.1:n.914A>T
ENST00000638705.1:c.614A>T	ENSP00000491223.1:p.Gln205Leu
ENST00000638836.1:n.524A>T
ENST00000639055.1:n.1335A>T
ENST00000639251.1:n.515A>T
ENST00000639268.1:c.249A>T
ENST00000639341.1:c.139A>T
ENST00000639770.1:c.652A>T	ENSP00000491999.1:n.652A>T
ENST00000640390.1:n.544A>T
ENST00000640560.1:n.390A>T
ENST00000640893.1:c.*12A>T	ENSP00000492677.1:n.*12A>T
ENST00000262493.10:c.614A>T	ENSP00000262493.6:p.Gln205Leu
ENST00000262494.11:c.614A>T	ENSP00000262494.7:p.Gln205Leu
ENST00000568375.1:n.6A>T
NM_020988.2:c.614A>T	NP_066268.1:p.Gln205Leu
NM_138736.2:c.614A>T	NP_620073.2:p.Gln205Leu
XM_011523003.1:c.488A>T	XP_011521305.1:p.Gln163Leu
XM_011523003.3:c.488A>T	XP_011521305.1:p.Gln163Leu
NM_020988.3:c.614A>T MANE Select	NP_066268.1:p.Gln205Leu
NM_138736.3:c.614A>T	NP_620073.2:p.Gln205Leu