Canonical Allele Identifier: CA373263356

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34514446T>C (hg19) ; chr9:g.34514448T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514448T>C , CM000671.2:g.34514448T>C	GRCh38
NC_000009.11:g.34514446T>C , CM000671.1:g.34514446T>C	GRCh37
NC_000009.10:g.34504446T>C	NCBI36
NG_008127.1:g.60636T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1624T>C MANE Select	ENSP00000242317.4:p.Ser542Pro
ENST00000242317.8:c.1624T>C	ENSP00000242317.4:p.Ser542Pro
ENST00000442556.1:c.135T>C
ENST00000470169.5:c.507-192T>C
ENST00000485580.1:n.103T>C
ENST00000614641.4:c.1636T>C	ENSP00000480538.1:p.Ser546Pro
NM_001281428.1:c.1636T>C	NP_001268357.1:p.Ser546Pro
NM_012144.3:c.1624T>C	NP_036276.1:p.Ser542Pro
XM_006716758.2:c.1093T>C	XP_006716821.1:p.Ser365Pro
XM_011517846.1:c.1636T>C	XP_011516148.1:p.Ser546Pro
XM_011517847.1:c.1636T>C	XP_011516149.1:p.Ser546Pro
XM_011517848.1:c.1378T>C	XP_011516150.1:p.Ser460Pro
XM_011517849.1:c.1582-56T>C	XP_011516151.1:n.1582-56T>C
XR_929232.1:n.1836-56T>C
XR_929233.1:n.1836-56T>C
XR_929235.1:n.1578-56T>C
XM_006716758.3:c.1093T>C	XP_006716821.1:p.Ser365Pro
XM_011517846.2:c.1636T>C	XP_011516148.1:p.Ser546Pro
XM_011517847.3:c.1636T>C	XP_011516149.1:p.Ser546Pro
XM_011517848.2:c.1378T>C	XP_011516150.1:p.Ser460Pro
XM_011517849.2:c.1582-56T>C	XP_011516151.1:n.1582-56T>C
XM_017014625.2:c.1366T>C	XP_016870114.1:p.Ser456Pro
XR_002956774.1:n.1783-56T>C
XR_929232.2:n.1783-56T>C
XR_929233.2:n.1783-56T>C
NM_012144.4:c.1624T>C MANE Select	NP_036276.1:p.Ser542Pro
NM_001281428.2:c.1636T>C	NP_001268357.1:p.Ser546Pro