Canonical Allele Identifier: CA4119374

Gene: INTS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.1484146G>A , CM000669.2:g.1484146G>A	GRCh38
NC_000007.13:g.1523782G>A , CM000669.1:g.1523782G>A	GRCh37
NC_000007.12:g.1490308G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001080453.3:c.3286C>T MANE Select	NP_001073922.2:p.Arg1096Cys
ENST00000404767.8:c.3286C>T MANE Select	ENSP00000385722.3:p.Arg1096Cys
NM_001080453.2:c.3286C>T	NP_001073922.2:p.Arg1096Cys
ENST00000404767.7:c.3286C>T	ENSP00000385722.3:p.Arg1096Cys
ENST00000468115.1:n.1332C>T
XM_011515260.1:c.3286C>T	XP_011513562.1:p.Arg1096Cys
XM_011515261.1:c.3286C>T	XP_011513563.1:p.Arg1096Cys
XM_011515262.1:c.3286C>T	XP_011513564.1:p.Arg1096Cys
XM_011515262.2:c.3286C>T	XP_011513564.1:p.Arg1096Cys
XM_017011959.1:c.3286C>T	XP_016867448.1:p.Arg1096Cys
XM_017011960.1:c.3286C>T	XP_016867449.1:p.Arg1096Cys
XR_001744624.1:n.3387C>T