Canonical Allele Identifier: CA395951744

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368753A>T (hg19) ; chr16:g.56334841A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334841A>T , CM000678.2:g.56334841A>T	GRCh38
NC_000016.9:g.56368753A>T , CM000678.1:g.56368753A>T	GRCh37
NC_000016.8:g.54926254A>T	NCBI36
NG_042800.1:g.148503A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.577A>T	ENSP00000262494.7:p.Lys193Ter
ENST00000262493.12:c.577A>T MANE Select	ENSP00000262493.6:p.Lys193Ter
ENST00000262494.12:c.577A>T	ENSP00000262494.7:p.Lys193Ter
ENST00000562316.6:c.244A>T	ENSP00000457238.2:p.Lys82Ter
ENST00000638185.1:n.792A>T
ENST00000638210.1:n.877A>T
ENST00000638705.1:c.577A>T	ENSP00000491223.1:p.Lys193Ter
ENST00000638836.1:n.487A>T
ENST00000639055.1:n.1298A>T
ENST00000639251.1:n.478A>T
ENST00000639268.1:c.229-1890A>T
ENST00000639341.1:c.102A>T
ENST00000639770.1:c.615A>T	ENSP00000491999.1:n.615A>T
ENST00000640390.1:n.507A>T
ENST00000640893.1:c.416A>T	ENSP00000492677.1:p.Gln139Leu
ENST00000262493.10:c.577A>T	ENSP00000262493.6:p.Lys193Ter
ENST00000262494.11:c.577A>T	ENSP00000262494.7:p.Lys193Ter
ENST00000562316.5:c.316A>T	ENSP00000457238.1:p.Lys106Ter
NM_020988.2:c.577A>T	NP_066268.1:p.Lys193Ter
NM_138736.2:c.577A>T	NP_620073.2:p.Lys193Ter
XM_011523003.1:c.451A>T	XP_011521305.1:p.Lys151Ter
XM_011523003.3:c.451A>T	XP_011521305.1:p.Lys151Ter
NM_020988.3:c.577A>T MANE Select	NP_066268.1:p.Lys193Ter
NM_138736.3:c.577A>T	NP_620073.2:p.Lys193Ter