Canonical Allele Identifier: CA464594180

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34514421C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514423C>G , CM000671.2:g.34514423C>G	GRCh38
NC_000009.11:g.34514421C>G , CM000671.1:g.34514421C>G	GRCh37
NC_000009.10:g.34504421C>G	NCBI36
NG_008127.1:g.60611C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1599C>G MANE Select	ENSP00000242317.4:p.Leu533=
ENST00000242317.8:c.1599C>G	ENSP00000242317.4:p.Leu533=
ENST00000442556.1:c.110C>G
ENST00000470169.5:c.507-217C>G
ENST00000485580.1:n.78C>G
ENST00000614641.4:c.1611C>G	ENSP00000480538.1:p.Leu537=
NM_001281428.1:c.1611C>G	NP_001268357.1:p.Leu537=
NM_012144.3:c.1599C>G	NP_036276.1:p.Leu533=
XM_006716758.2:c.1068C>G	XP_006716821.1:p.Leu356=
XM_011517846.1:c.1611C>G	XP_011516148.1:p.Leu537=
XM_011517847.1:c.1611C>G	XP_011516149.1:p.Leu537=
XM_011517848.1:c.1353C>G	XP_011516150.1:p.Leu451=
XM_011517849.1:c.1582-81C>G	XP_011516151.1:n.1582-81C>G
XR_929232.1:n.1836-81C>G
XR_929233.1:n.1836-81C>G
XR_929235.1:n.1578-81C>G
XM_006716758.3:c.1068C>G	XP_006716821.1:p.Leu356=
XM_011517846.2:c.1611C>G	XP_011516148.1:p.Leu537=
XM_011517847.3:c.1611C>G	XP_011516149.1:p.Leu537=
XM_011517848.2:c.1353C>G	XP_011516150.1:p.Leu451=
XM_011517849.2:c.1582-81C>G	XP_011516151.1:n.1582-81C>G
XM_017014625.2:c.1341C>G	XP_016870114.1:p.Leu447=
XR_002956774.1:n.1783-81C>G
XR_929232.2:n.1783-81C>G
XR_929233.2:n.1783-81C>G
NM_012144.4:c.1599C>G MANE Select	NP_036276.1:p.Leu533=
NM_001281428.2:c.1611C>G	NP_001268357.1:p.Leu537=