Canonical Allele Identifier: CA2739303119
Community Standard Title: NM_001330994.2(GRIK1):c.2608-6069G=

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.29543953C= , CM000683.2:g.29543953C= GRCh38
NC_000021.8:g.30916274C= , CM000683.1:g.30916274C= GRCh37
NC_000021.7:g.29838145C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001330994.2:c.2608-6069G= (GRIK1) MANE Select NP_001317923.1:n.2608-6069G=
ENST00000327783.9:c.2608-6069G= (GRIK1) MANE Select ENSP00000327687.4:n.2608-6069G=
NM_001320616.1:c.2608-6568G= (GRIK1) NP_001307545.1:n.2608-6568G=
NM_001320616.2:c.2608-6568G= (GRIK1) NP_001307545.1:n.2608-6568G=
NM_001320618.1:c.2191-6568G= (GRIK1) NP_001307547.1:n.2191-6568G=
NM_001320618.2:c.2191-6568G= (GRIK1) NP_001307547.1:n.2191-6568G=
NM_001320621.1:c.2137-6568G= (GRIK1) NP_001307550.1:n.2137-6568G=
NM_001320621.2:c.2137-6568G= (GRIK1) NP_001307550.1:n.2137-6568G=
NM_001330993.1:c.2563-6069G= (GRIK1) NP_001317922.1:n.2563-6069G=
NM_001330993.2:c.2563-6069G= (GRIK1) NP_001317922.1:n.2563-6069G=
NM_001330994.1:c.2608-6069G= (GRIK1) NP_001317923.1:n.2608-6069G=
NM_175611.2:c.2563-6568G= (GRIK1) NP_783300.1:n.2563-6568G=
NM_175611.3:c.2563-6568G= (GRIK1) NP_783300.1:n.2563-6568G=
ENST00000327783.8:c.2608-6069G= (GRIK1) ENSP00000327687.4:n.2608-6069G=
ENST00000389124.6:c.2608-6175G= (GRIK1) ENSP00000373776.2:n.2608-6175G=
ENST00000389125.7:c.2563-6568G= (GRIK1) ENSP00000373777.3:n.2563-6568G=
ENST00000399913.5:c.2608-6568G= (GRIK1) ENSP00000382797.1:n.2608-6568G=
ENST00000399914.5:c.2563-6069G= (GRIK1) ENSP00000382798.1:n.2563-6069G=
ENST00000422809.5:c.473-38359C= (BACH1)
ENST00000468059.1:c.326-53617C= (BACH1)
ENST00000535441.5:c.2446-6568G= (GRIK1) ENSP00000446326.2:n.2446-6568G=
XM_005260942.1:c.2563-6069G= (GRIK1) XP_005260999.1:n.2563-6069G=
XM_005260943.1:c.2608-6568G= (GRIK1) XP_005261000.1:n.2608-6568G=
XM_006723991.1:c.2608-6069G= (GRIK1) XP_006724054.1:n.2608-6069G=
XR_001754829.2:n.2659-6069G= (GRIK1)