Canonical Allele Identifier: CA373266277

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34517300A>C (hg19) ; chr9:g.34517302A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517302A>C , CM000671.2:g.34517302A>C	GRCh38
NC_000009.11:g.34517300A>C , CM000671.1:g.34517300A>C	GRCh37
NC_000009.10:g.34507300A>C	NCBI36
NG_008127.1:g.63490A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1836A>C MANE Select	ENSP00000242317.4:p.Leu612Phe
ENST00000242317.8:c.1836A>C	ENSP00000242317.4:p.Leu612Phe
ENST00000442556.1:c.329+2563A>C
ENST00000470169.5:c.624A>C
ENST00000485580.1:n.412A>C
ENST00000614641.4:c.1848A>C	ENSP00000480538.1:p.Leu616Phe
NM_001281428.1:c.1848A>C	NP_001268357.1:p.Leu616Phe
NM_012144.3:c.1836A>C	NP_036276.1:p.Leu612Phe
XM_006716758.2:c.1305A>C	XP_006716821.1:p.Leu435Phe
XM_011517848.1:c.1590A>C	XP_011516150.1:p.Leu530Phe
XM_006716758.3:c.1305A>C	XP_006716821.1:p.Leu435Phe
XM_011517848.2:c.1590A>C	XP_011516150.1:p.Leu530Phe
XM_017014625.2:c.1578A>C	XP_016870114.1:p.Leu526Phe
XR_002956774.1:n.1939A>C
NM_012144.4:c.1836A>C MANE Select	NP_036276.1:p.Leu612Phe
NM_001281428.2:c.1848A>C	NP_001268357.1:p.Leu616Phe