Canonical Allele Identifier: CA4119206

Gene: INTS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.1482699T>C , CM000669.2:g.1482699T>C	GRCh38
NC_000007.13:g.1522335T>C , CM000669.1:g.1522335T>C	GRCh37
NC_000007.12:g.1488861T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001080453.3:c.3550A>G MANE Select	NP_001073922.2:p.Ser1184Gly
ENST00000404767.8:c.3550A>G MANE Select	ENSP00000385722.3:p.Ser1184Gly
NM_001080453.2:c.3550A>G	NP_001073922.2:p.Ser1184Gly
ENST00000404767.7:c.3550A>G	ENSP00000385722.3:p.Ser1184Gly
ENST00000468115.1:n.2630A>G
XM_011515260.1:c.3550A>G	XP_011513562.1:p.Ser1184Gly
XM_011515261.1:c.*682A>G	XP_011513563.1:n.*682A>G
XM_011515262.1:c.3591A>G	XP_011513564.1:p.Thr1197=
XM_011515262.2:c.3591A>G	XP_011513564.1:p.Thr1197=
XM_017011959.1:c.3550A>G	XP_016867448.1:p.Ser1184Gly
XM_017011960.1:c.3550A>G	XP_016867449.1:p.Ser1184Gly
XR_001744624.1:n.3651A>G