Canonical Allele Identifier: CA395954583

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385302A>C (hg19) ; chr16:g.56351390A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351390A>C , CM000678.2:g.56351390A>C	GRCh38
NC_000016.9:g.56385302A>C , CM000678.1:g.56385302A>C	GRCh37
NC_000016.8:g.54942803A>C	NCBI36
NG_042800.1:g.165052A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.730A>C MANE Select	ENSP00000262493.6:p.Met244Leu
ENST00000562316.6:c.397A>C	ENSP00000457238.2:p.Met133Leu
ENST00000564727.2:c.34A>C	ENSP00000454971.2:p.Met12Leu
ENST00000568375.2:c.116-3476A>C
ENST00000638185.1:n.945A>C
ENST00000638210.1:n.1030A>C
ENST00000638705.1:c.730A>C	ENSP00000491223.1:p.Met244Leu
ENST00000638836.1:n.640A>C
ENST00000639055.1:n.1451A>C
ENST00000639251.1:n.631A>C
ENST00000639268.1:c.365A>C
ENST00000639341.1:c.255A>C
ENST00000639770.1:c.768A>C	ENSP00000491999.1:n.768A>C
ENST00000640390.1:n.660A>C
ENST00000640469.1:c.94A>C	ENSP00000491875.1:p.Met32Leu
ENST00000640560.1:n.506A>C
ENST00000640893.1:c.*128A>C	ENSP00000492677.1:n.*128A>C
ENST00000262493.10:c.730A>C	ENSP00000262493.6:p.Met244Leu
ENST00000568375.1:n.116-3476A>C
NM_020988.2:c.730A>C	NP_066268.1:p.Met244Leu
XM_011523003.1:c.604A>C	XP_011521305.1:p.Met202Leu
XM_011523003.3:c.604A>C	XP_011521305.1:p.Met202Leu
NM_020988.3:c.730A>C MANE Select	NP_066268.1:p.Met244Leu