Canonical Allele Identifier: CA343577604

Gene: TOR1AIP1

Linked Data

• ClinVar Variation Id: 3181299
• ClinVar RCV Id: RCV004468166
• MyVariant Identifiers: chr1:g.179851716G>C (hg19) ; chr1:g.179882581G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179882581G>C , CM000663.2:g.179882581G>C	GRCh38
NC_000001.10:g.179851716G>C , CM000663.1:g.179851716G>C	GRCh37
NC_000001.9:g.178118339G>C	NCBI36
NG_042316.1:g.5540G>C
NG_053185.1:g.1034C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000606911.7:c.79G>C MANE Select	ENSP00000476687.1:p.Glu27Gln
ENST00000271583.7:c.79G>C	ENSP00000271583.3:p.Glu27Gln
ENST00000528443.6:c.79G>C	ENSP00000435365.2:p.Glu27Gln
ENST00000606911.6:c.79G>C	ENSP00000476687.1:p.Glu27Gln
NM_001267578.1:c.79G>C	NP_001254507.1:p.Glu27Gln
NM_015602.3:c.79G>C	NP_056417.2:p.Glu27Gln
XM_011509403.1:c.79G>C	XP_011507705.1:p.Glu27Gln
XM_011509404.1:c.79G>C	XP_011507706.1:p.Glu27Gln
XM_011509403.2:c.79G>C	XP_011507705.1:p.Glu27Gln
XM_011509404.2:c.79G>C	XP_011507706.1:p.Glu27Gln
NM_001267578.2:c.79G>C	NP_001254507.1:p.Glu27Gln
NM_015602.4:c.79G>C MANE Select	NP_056417.2:p.Glu27Gln