Canonical Allele Identifier: CA464398316

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 1082271
• ClinVar RCV Id: RCV001398544
• dbSNP Id: rs1204149839
• gnomAD v2: 9-34514409-C-T
• gnomAD v4: 9-34514411-C-T
• COSMIC: COSM422384
• MyVariant Identifiers: chr9:g.34514409C>T (hg19) ; chr9:g.34514411C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514411C>T , CM000671.2:g.34514411C>T	GRCh38
NC_000009.11:g.34514409C>T , CM000671.1:g.34514409C>T	GRCh37
NC_000009.10:g.34504409C>T	NCBI36
NG_008127.1:g.60599C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1587C>T MANE Select	ENSP00000242317.4:p.Ser529=
ENST00000242317.8:c.1587C>T	ENSP00000242317.4:p.Ser529=
ENST00000442556.1:c.98C>T
ENST00000470169.5:c.507-229C>T
ENST00000485580.1:n.66C>T
ENST00000614641.4:c.1599C>T	ENSP00000480538.1:p.Ser533=
NM_001281428.1:c.1599C>T	NP_001268357.1:p.Ser533=
NM_012144.3:c.1587C>T	NP_036276.1:p.Ser529=
XM_006716758.2:c.1056C>T	XP_006716821.1:p.Ser352=
XM_011517846.1:c.1599C>T	XP_011516148.1:p.Ser533=
XM_011517847.1:c.1599C>T	XP_011516149.1:p.Ser533=
XM_011517848.1:c.1341C>T	XP_011516150.1:p.Ser447=
XM_011517849.1:c.1582-93C>T	XP_011516151.1:n.1582-93C>T
XR_929232.1:n.1836-93C>T
XR_929233.1:n.1836-93C>T
XR_929235.1:n.1578-93C>T
XM_006716758.3:c.1056C>T	XP_006716821.1:p.Ser352=
XM_011517846.2:c.1599C>T	XP_011516148.1:p.Ser533=
XM_011517847.3:c.1599C>T	XP_011516149.1:p.Ser533=
XM_011517848.2:c.1341C>T	XP_011516150.1:p.Ser447=
XM_011517849.2:c.1582-93C>T	XP_011516151.1:n.1582-93C>T
XM_017014625.2:c.1329C>T	XP_016870114.1:p.Ser443=
XR_002956774.1:n.1783-93C>T
XR_929232.2:n.1783-93C>T
XR_929233.2:n.1783-93C>T
NM_012144.4:c.1587C>T MANE Select	NP_036276.1:p.Ser529=
NM_001281428.2:c.1599C>T	NP_001268357.1:p.Ser533=