Canonical Allele Identifier: CA373257208

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 1755056
• ClinVar RCV Id: RCV002367218
• MyVariant Identifiers: chr9:g.34506790T>C (hg19) ; chr9:g.34506792T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34506792T>C , CM000671.2:g.34506792T>C	GRCh38
NC_000009.11:g.34506790T>C , CM000671.1:g.34506790T>C	GRCh37
NC_000009.10:g.34496790T>C	NCBI36
NG_008127.1:g.52980T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1229T>C MANE Select	ENSP00000242317.4:p.Ile410Thr
ENST00000242317.8:c.1229T>C	ENSP00000242317.4:p.Ile410Thr
ENST00000470169.5:c.166T>C
ENST00000614641.4:c.1241T>C	ENSP00000480538.1:p.Ile414Thr
NM_001281428.1:c.1241T>C	NP_001268357.1:p.Ile414Thr
NM_012144.3:c.1229T>C	NP_036276.1:p.Ile410Thr
XM_006716758.2:c.698T>C	XP_006716821.1:p.Ile233Thr
XM_011517846.1:c.1241T>C	XP_011516148.1:p.Ile414Thr
XM_011517847.1:c.1241T>C	XP_011516149.1:p.Ile414Thr
XM_011517848.1:c.1241T>C	XP_011516150.1:p.Ile414Thr
XM_011517849.1:c.1241T>C	XP_011516151.1:p.Ile414Thr
XM_011517850.1:c.1241T>C	XP_011516152.1:p.Ile414Thr
XR_929232.1:n.1495T>C
XR_929233.1:n.1495T>C
XR_929235.1:n.1495T>C
XM_006716758.3:c.698T>C	XP_006716821.1:p.Ile233Thr
XM_011517846.2:c.1241T>C	XP_011516148.1:p.Ile414Thr
XM_011517847.3:c.1241T>C	XP_011516149.1:p.Ile414Thr
XM_011517848.2:c.1241T>C	XP_011516150.1:p.Ile414Thr
XM_011517849.2:c.1241T>C	XP_011516151.1:p.Ile414Thr
XM_011517850.3:c.1241T>C	XP_011516152.1:p.Ile414Thr
XM_017014625.2:c.1229T>C	XP_016870114.1:p.Ile410Thr
XR_002956774.1:n.1442T>C
XR_929232.2:n.1442T>C
XR_929233.2:n.1442T>C
NM_012144.4:c.1229T>C MANE Select	NP_036276.1:p.Ile410Thr
NM_001281428.2:c.1241T>C	NP_001268357.1:p.Ile414Thr