Canonical Allele Identifier: CA395952275

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370704G>C (hg19) ; chr16:g.56336792G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336792G>C , CM000678.2:g.56336792G>C	GRCh38
NC_000016.9:g.56370704G>C , CM000678.1:g.56370704G>C	GRCh37
NC_000016.8:g.54928205G>C	NCBI36
NG_042800.1:g.150454G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.655G>C	ENSP00000262494.7:p.Val219Leu
ENST00000262493.12:c.655G>C MANE Select	ENSP00000262493.6:p.Val219Leu
ENST00000262494.12:c.655G>C	ENSP00000262494.7:p.Val219Leu
ENST00000562316.6:c.322G>C	ENSP00000457238.2:p.Val108Leu
ENST00000568375.2:c.47G>C
ENST00000638185.1:n.870G>C
ENST00000638210.1:n.955G>C
ENST00000638705.1:c.655G>C	ENSP00000491223.1:p.Val219Leu
ENST00000638836.1:n.565G>C
ENST00000639055.1:n.1376G>C
ENST00000639251.1:n.556G>C
ENST00000639268.1:c.290G>C
ENST00000639341.1:c.180G>C
ENST00000639770.1:c.693G>C	ENSP00000491999.1:n.693G>C
ENST00000640390.1:n.585G>C
ENST00000640469.1:c.19G>C	ENSP00000491875.1:p.Val7Leu
ENST00000640560.1:n.431G>C
ENST00000640893.1:c.*53G>C	ENSP00000492677.1:n.*53G>C
ENST00000262493.10:c.655G>C	ENSP00000262493.6:p.Val219Leu
ENST00000262494.11:c.655G>C	ENSP00000262494.7:p.Val219Leu
ENST00000568375.1:n.47G>C
NM_020988.2:c.655G>C	NP_066268.1:p.Val219Leu
NM_138736.2:c.655G>C	NP_620073.2:p.Val219Leu
XM_011523003.1:c.529G>C	XP_011521305.1:p.Val177Leu
XM_011523003.3:c.529G>C	XP_011521305.1:p.Val177Leu
NM_020988.3:c.655G>C MANE Select	NP_066268.1:p.Val219Leu
NM_138736.3:c.655G>C	NP_620073.2:p.Val219Leu