Canonical Allele Identifier: CA373263439

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34514459T>G (hg19) ; chr9:g.34514461T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514461T>G , CM000671.2:g.34514461T>G	GRCh38
NC_000009.11:g.34514459T>G , CM000671.1:g.34514459T>G	GRCh37
NC_000009.10:g.34504459T>G	NCBI36
NG_008127.1:g.60649T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1637T>G MANE Select	ENSP00000242317.4:p.Val546Gly
ENST00000242317.8:c.1637T>G	ENSP00000242317.4:p.Val546Gly
ENST00000442556.1:c.148T>G
ENST00000470169.5:c.507-179T>G
ENST00000485580.1:n.116T>G
ENST00000614641.4:c.1649T>G	ENSP00000480538.1:p.Val550Gly
NM_001281428.1:c.1649T>G	NP_001268357.1:p.Val550Gly
NM_012144.3:c.1637T>G	NP_036276.1:p.Val546Gly
XM_006716758.2:c.1106T>G	XP_006716821.1:p.Val369Gly
XM_011517846.1:c.1649T>G	XP_011516148.1:p.Val550Gly
XM_011517847.1:c.1649T>G	XP_011516149.1:p.Val550Gly
XM_011517848.1:c.1391T>G	XP_011516150.1:p.Val464Gly
XM_011517849.1:c.1582-43T>G	XP_011516151.1:n.1582-43T>G
XR_929232.1:n.1836-43T>G
XR_929233.1:n.1836-43T>G
XR_929235.1:n.1578-43T>G
XM_006716758.3:c.1106T>G	XP_006716821.1:p.Val369Gly
XM_011517846.2:c.1649T>G	XP_011516148.1:p.Val550Gly
XM_011517847.3:c.1649T>G	XP_011516149.1:p.Val550Gly
XM_011517848.2:c.1391T>G	XP_011516150.1:p.Val464Gly
XM_011517849.2:c.1582-43T>G	XP_011516151.1:n.1582-43T>G
XM_017014625.2:c.1379T>G	XP_016870114.1:p.Val460Gly
XR_002956774.1:n.1783-43T>G
XR_929232.2:n.1783-43T>G
XR_929233.2:n.1783-43T>G
NM_012144.4:c.1637T>G MANE Select	NP_036276.1:p.Val546Gly
NM_001281428.2:c.1649T>G	NP_001268357.1:p.Val550Gly