Canonical Allele Identifier: CA395955021

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388810A>C (hg19) ; chr16:g.56354898A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354898A>C , CM000678.2:g.56354898A>C	GRCh38
NC_000016.9:g.56388810A>C , CM000678.1:g.56388810A>C	GRCh37
NC_000016.8:g.54946311A>C	NCBI36
NG_042800.1:g.168560A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.910A>C MANE Select	ENSP00000262493.6:p.Ile304Leu
ENST00000562316.6:c.545-1205A>C	ENSP00000457238.2:n.545-1205A>C
ENST00000564727.2:c.214A>C	ENSP00000454971.2:p.Ile72Leu
ENST00000568375.2:c.148A>C
ENST00000638185.1:n.1125A>C
ENST00000638210.1:n.1210A>C
ENST00000638705.1:c.910A>C	ENSP00000491223.1:p.Ile304Leu
ENST00000638836.1:n.820A>C
ENST00000639055.1:n.1631A>C
ENST00000639251.1:n.811A>C
ENST00000639268.1:c.545A>C
ENST00000639341.1:c.435A>C
ENST00000639770.1:c.948A>C	ENSP00000491999.1:n.948A>C
ENST00000640390.1:n.840A>C
ENST00000640469.1:c.274A>C	ENSP00000491875.1:p.Ile92Leu
ENST00000640560.1:n.686A>C
ENST00000640893.1:c.*308A>C	ENSP00000492677.1:n.*308A>C
ENST00000262493.10:c.910A>C	ENSP00000262493.6:p.Ile304Leu
ENST00000564727.1:c.130A>C	ENSP00000454971.1:p.Ile44Leu
ENST00000568375.1:n.148A>C
NM_020988.2:c.910A>C	NP_066268.1:p.Ile304Leu
XM_011523003.1:c.784A>C	XP_011521305.1:p.Ile262Leu
XM_011523003.3:c.784A>C	XP_011521305.1:p.Ile262Leu
NM_020988.3:c.910A>C MANE Select	NP_066268.1:p.Ile304Leu