Canonical Allele Identifier: CA395954758

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385372T>C (hg19) ; chr16:g.56351460T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351460T>C , CM000678.2:g.56351460T>C	GRCh38
NC_000016.9:g.56385372T>C , CM000678.1:g.56385372T>C	GRCh37
NC_000016.8:g.54942873T>C	NCBI36
NG_042800.1:g.165122T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.800T>C MANE Select	ENSP00000262493.6:p.Leu267Pro
ENST00000562316.6:c.467T>C	ENSP00000457238.2:p.Leu156Pro
ENST00000564727.2:c.104T>C	ENSP00000454971.2:p.Leu35Pro
ENST00000568375.2:c.116-3406T>C
ENST00000638185.1:n.1015T>C
ENST00000638210.1:n.1100T>C
ENST00000638705.1:c.800T>C	ENSP00000491223.1:p.Leu267Pro
ENST00000638836.1:n.710T>C
ENST00000639055.1:n.1521T>C
ENST00000639251.1:n.701T>C
ENST00000639268.1:c.435T>C
ENST00000639341.1:c.325T>C
ENST00000639770.1:c.838T>C	ENSP00000491999.1:n.838T>C
ENST00000640390.1:n.730T>C
ENST00000640469.1:c.164T>C	ENSP00000491875.1:p.Leu55Pro
ENST00000640560.1:n.576T>C
ENST00000640893.1:c.*198T>C	ENSP00000492677.1:n.*198T>C
ENST00000262493.10:c.800T>C	ENSP00000262493.6:p.Leu267Pro
ENST00000564727.1:c.20T>C	ENSP00000454971.1:p.Leu7Pro
ENST00000568375.1:n.116-3406T>C
NM_020988.2:c.800T>C	NP_066268.1:p.Leu267Pro
XM_011523003.1:c.674T>C	XP_011521305.1:p.Leu225Pro
XM_011523003.3:c.674T>C	XP_011521305.1:p.Leu225Pro
NM_020988.3:c.800T>C MANE Select	NP_066268.1:p.Leu267Pro