Canonical Allele Identifier: CA1268839

Gene: TOR1AIP1

Linked Data

• ClinVar Variation Id: 257701
• ClinVar RCV Id: RCV000252823 ; RCV000626056 ; RCV001537297
• dbSNP Id: rs2245425
• ExAC: 1:179858444 G / A
• gnomAD v2: 1-179858444-G-A
• gnomAD v3: 1-179889309-G-A
• gnomAD v4: 1-179889309-G-A
• MyVariant Identifiers: chr1:g.179858444G>A (hg19) ; chr1:g.179889309G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179889309G>A , CM000663.2:g.179889309G>A	GRCh38
NC_000001.10:g.179858444G>A , CM000663.1:g.179858444G>A	GRCh37
NC_000001.9:g.178125067G>A	NCBI36
NG_042316.1:g.12268G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000606911.7:c.554-4G>A MANE Select	ENSP00000476687.1:n.554-4G>A
ENST00000271583.7:c.554-1G>A	ENSP00000271583.3:n.554-1G>A
ENST00000435319.8:c.191-4G>A	ENSP00000393292.3:n.191-4G>A
ENST00000474875.5:n.146-4G>A
ENST00000524653.1:n.123-4G>A
ENST00000527391.5:c.183-4G>A
ENST00000527867.5:n.302-4G>A
ENST00000528443.6:c.554-1G>A	ENSP00000435365.2:n.554-1G>A
ENST00000529091.5:c.345-4G>A
ENST00000531630.6:c.263-4G>A	ENSP00000434316.2:n.263-4G>A
ENST00000531726.5:n.140-1G>A
ENST00000606911.6:c.554-4G>A	ENSP00000476687.1:n.554-4G>A
NM_001267578.1:c.554-1G>A	NP_001254507.1:n.554-1G>A
NM_015602.3:c.554-4G>A	NP_056417.2:n.554-4G>A
XM_011509403.1:c.554-1G>A	XP_011507705.1:n.554-1G>A
XM_011509404.1:c.554-4G>A	XP_011507706.1:n.554-4G>A
XM_011509403.2:c.554-1G>A	XP_011507705.1:n.554-1G>A
XM_011509404.2:c.554-4G>A	XP_011507706.1:n.554-4G>A
XM_024446305.1:c.-347-4G>A	XP_024302073.1:n.-347-4G>A
NM_001267578.2:c.554-1G>A	NP_001254507.1:n.554-1G>A
NM_015602.4:c.554-4G>A MANE Select	NP_056417.2:n.554-4G>A