Canonical Allele Identifier: CA373263121

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514415C>T , CM000671.2:g.34514415C>T	GRCh38
NC_000009.11:g.34514413C>T , CM000671.1:g.34514413C>T	GRCh37
NC_000009.10:g.34504413C>T	NCBI36
NG_008127.1:g.60603C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.1591C>T MANE Select	NP_036276.1:p.Gln531Ter
ENST00000242317.9:c.1591C>T MANE Select	ENSP00000242317.4:p.Gln531Ter
NM_001281428.1:c.1603C>T	NP_001268357.1:p.Gln535Ter
NM_001281428.2:c.1603C>T	NP_001268357.1:p.Gln535Ter
NM_012144.3:c.1591C>T	NP_036276.1:p.Gln531Ter
ENST00000242317.8:c.1591C>T	ENSP00000242317.4:p.Gln531Ter
ENST00000442556.1:c.102C>T
ENST00000470169.5:c.507-225C>T
ENST00000485580.1:n.70C>T
ENST00000614641.4:c.1603C>T	ENSP00000480538.1:p.Gln535Ter
XM_006716758.2:c.1060C>T	XP_006716821.1:p.Gln354Ter
XM_006716758.3:c.1060C>T	XP_006716821.1:p.Gln354Ter
XM_011517846.1:c.1603C>T	XP_011516148.1:p.Gln535Ter
XM_011517846.2:c.1603C>T	XP_011516148.1:p.Gln535Ter
XM_011517847.1:c.1603C>T	XP_011516149.1:p.Gln535Ter
XM_011517847.3:c.1603C>T	XP_011516149.1:p.Gln535Ter
XM_011517848.1:c.1345C>T	XP_011516150.1:p.Gln449Ter
XM_011517848.2:c.1345C>T	XP_011516150.1:p.Gln449Ter
XM_011517849.1:c.1582-89C>T	XP_011516151.1:n.1582-89C>T
XM_011517849.2:c.1582-89C>T	XP_011516151.1:n.1582-89C>T
XM_017014625.2:c.1333C>T	XP_016870114.1:p.Gln445Ter
XR_002956774.1:n.1783-89C>T
XR_929232.1:n.1836-89C>T
XR_929232.2:n.1783-89C>T
XR_929233.1:n.1836-89C>T
XR_929233.2:n.1783-89C>T
XR_929235.1:n.1578-89C>T