Canonical Allele Identifier: CA395951549

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368708A>C (hg19) ; chr16:g.56334796A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334796A>C , CM000678.2:g.56334796A>C	GRCh38
NC_000016.9:g.56368708A>C , CM000678.1:g.56368708A>C	GRCh37
NC_000016.8:g.54926209A>C	NCBI36
NG_042800.1:g.148458A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.532A>C	ENSP00000262494.7:p.Thr178Pro
ENST00000262493.12:c.532A>C MANE Select	ENSP00000262493.6:p.Thr178Pro
ENST00000262494.12:c.532A>C	ENSP00000262494.7:p.Thr178Pro
ENST00000562316.6:c.199A>C	ENSP00000457238.2:p.Thr67Pro
ENST00000638185.1:n.747A>C
ENST00000638210.1:n.832A>C
ENST00000638705.1:c.532A>C	ENSP00000491223.1:p.Thr178Pro
ENST00000638836.1:n.442A>C
ENST00000639055.1:n.1253A>C
ENST00000639251.1:n.433A>C
ENST00000639268.1:c.229-1935A>C
ENST00000639341.1:c.57A>C
ENST00000639770.1:c.570A>C	ENSP00000491999.1:n.570A>C
ENST00000640390.1:n.462A>C
ENST00000640893.1:c.371A>C	ENSP00000492677.1:p.Asn124Thr
ENST00000262493.10:c.532A>C	ENSP00000262493.6:p.Thr178Pro
ENST00000262494.11:c.532A>C	ENSP00000262494.7:p.Thr178Pro
ENST00000562316.5:c.271A>C	ENSP00000457238.1:p.Thr91Pro
NM_020988.2:c.532A>C	NP_066268.1:p.Thr178Pro
NM_138736.2:c.532A>C	NP_620073.2:p.Thr178Pro
XM_011523003.1:c.406A>C	XP_011521305.1:p.Thr136Pro
XM_011523003.3:c.406A>C	XP_011521305.1:p.Thr136Pro
NM_020988.3:c.532A>C MANE Select	NP_066268.1:p.Thr178Pro
NM_138736.3:c.532A>C	NP_620073.2:p.Thr178Pro