Canonical Allele Identifier: CA395954912

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385437C>T (hg19) ; chr16:g.56351525C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351525C>T , CM000678.2:g.56351525C>T	GRCh38
NC_000016.9:g.56385437C>T , CM000678.1:g.56385437C>T	GRCh37
NC_000016.8:g.54942938C>T	NCBI36
NG_042800.1:g.165187C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.865C>T MANE Select	ENSP00000262493.6:p.Pro289Ser
ENST00000562316.6:c.532C>T	ENSP00000457238.2:p.Pro178Ser
ENST00000564727.2:c.169C>T	ENSP00000454971.2:p.Pro57Ser
ENST00000568375.2:c.116-3341C>T
ENST00000638185.1:n.1080C>T
ENST00000638210.1:n.1165C>T
ENST00000638705.1:c.865C>T	ENSP00000491223.1:p.Pro289Ser
ENST00000638836.1:n.775C>T
ENST00000639055.1:n.1586C>T
ENST00000639251.1:n.766C>T
ENST00000639268.1:c.500C>T
ENST00000639341.1:c.390C>T
ENST00000639770.1:c.903C>T	ENSP00000491999.1:n.903C>T
ENST00000640390.1:n.795C>T
ENST00000640469.1:c.229C>T	ENSP00000491875.1:p.Pro77Ser
ENST00000640560.1:n.641C>T
ENST00000640893.1:c.*263C>T	ENSP00000492677.1:n.*263C>T
ENST00000262493.10:c.865C>T	ENSP00000262493.6:p.Pro289Ser
ENST00000564727.1:c.85C>T	ENSP00000454971.1:p.Pro29Ser
ENST00000568375.1:n.116-3341C>T
NM_020988.2:c.865C>T	NP_066268.1:p.Pro289Ser
XM_011523003.1:c.739C>T	XP_011521305.1:p.Pro247Ser
XM_011523003.3:c.739C>T	XP_011521305.1:p.Pro247Ser
NM_020988.3:c.865C>T MANE Select	NP_066268.1:p.Pro289Ser