Canonical Allele Identifier: CA395954611

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385311T>C (hg19) ; chr16:g.56351399T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351399T>C , CM000678.2:g.56351399T>C	GRCh38
NC_000016.9:g.56385311T>C , CM000678.1:g.56385311T>C	GRCh37
NC_000016.8:g.54942812T>C	NCBI36
NG_042800.1:g.165061T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.739T>C MANE Select	ENSP00000262493.6:p.Ser247Pro
ENST00000562316.6:c.406T>C	ENSP00000457238.2:p.Ser136Pro
ENST00000564727.2:c.43T>C	ENSP00000454971.2:p.Ser15Pro
ENST00000568375.2:c.116-3467T>C
ENST00000638185.1:n.954T>C
ENST00000638210.1:n.1039T>C
ENST00000638705.1:c.739T>C	ENSP00000491223.1:p.Ser247Pro
ENST00000638836.1:n.649T>C
ENST00000639055.1:n.1460T>C
ENST00000639251.1:n.640T>C
ENST00000639268.1:c.374T>C
ENST00000639341.1:c.264T>C
ENST00000639770.1:c.777T>C	ENSP00000491999.1:n.777T>C
ENST00000640390.1:n.669T>C
ENST00000640469.1:c.103T>C	ENSP00000491875.1:p.Ser35Pro
ENST00000640560.1:n.515T>C
ENST00000640893.1:c.*137T>C	ENSP00000492677.1:n.*137T>C
ENST00000262493.10:c.739T>C	ENSP00000262493.6:p.Ser247Pro
ENST00000568375.1:n.116-3467T>C
NM_020988.2:c.739T>C	NP_066268.1:p.Ser247Pro
XM_011523003.1:c.613T>C	XP_011521305.1:p.Ser205Pro
XM_011523003.3:c.613T>C	XP_011521305.1:p.Ser205Pro
NM_020988.3:c.739T>C MANE Select	NP_066268.1:p.Ser247Pro