Canonical Allele Identifier: CA395955255

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388903G>C (hg19) ; chr16:g.56354991G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354991G>C , CM000678.2:g.56354991G>C	GRCh38
NC_000016.9:g.56388903G>C , CM000678.1:g.56388903G>C	GRCh37
NC_000016.8:g.54946404G>C	NCBI36
NG_042800.1:g.168653G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1003G>C MANE Select	ENSP00000262493.6:p.Val335Leu
ENST00000562316.6:c.545-1112G>C	ENSP00000457238.2:n.545-1112G>C
ENST00000564727.2:c.303+4G>C	ENSP00000454971.2:n.303+4G>C
ENST00000568375.2:c.241G>C
ENST00000638210.1:n.1303G>C
ENST00000638705.1:c.1003G>C	ENSP00000491223.1:p.Val335Leu
ENST00000638836.1:n.913G>C
ENST00000639251.1:n.904G>C
ENST00000639268.1:c.638G>C
ENST00000639341.1:c.528G>C
ENST00000639770.1:c.1041G>C	ENSP00000491999.1:n.1041G>C
ENST00000640390.1:n.933G>C
ENST00000640469.1:c.367G>C	ENSP00000491875.1:p.Val123Leu
ENST00000640560.1:n.779G>C
ENST00000640893.1:c.*401G>C	ENSP00000492677.1:n.*401G>C
ENST00000262493.10:c.1003G>C	ENSP00000262493.6:p.Val335Leu
ENST00000564727.1:c.223G>C	ENSP00000454971.1:p.Val75Leu
ENST00000568375.1:n.241G>C
NM_020988.2:c.1003G>C	NP_066268.1:p.Val335Leu
XM_011523003.1:c.877G>C	XP_011521305.1:p.Val293Leu
XM_011523003.3:c.877G>C	XP_011521305.1:p.Val293Leu
NM_020988.3:c.1003G>C MANE Select	NP_066268.1:p.Val335Leu