Canonical Allele Identifier: CA366594047

Gene: INTS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.1497297G>T , CM000669.2:g.1497297G>T	GRCh38
NC_000007.13:g.1536933G>T , CM000669.1:g.1536933G>T	GRCh37
NC_000007.12:g.1503459G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001080453.3:c.1443C>A MANE Select	NP_001073922.2:p.Phe481Leu
ENST00000404767.8:c.1443C>A MANE Select	ENSP00000385722.3:p.Phe481Leu
NM_001080453.2:c.1443C>A	NP_001073922.2:p.Phe481Leu
ENST00000404767.7:c.1443C>A	ENSP00000385722.3:p.Phe481Leu
XM_011515260.1:c.1443C>A	XP_011513562.1:p.Phe481Leu
XM_011515261.1:c.1443C>A	XP_011513563.1:p.Phe481Leu
XM_011515262.1:c.1443C>A	XP_011513564.1:p.Phe481Leu
XM_011515262.2:c.1443C>A	XP_011513564.1:p.Phe481Leu
XM_017011959.1:c.1443C>A	XP_016867448.1:p.Phe481Leu
XM_017011960.1:c.1443C>A	XP_016867449.1:p.Phe481Leu
XR_001744624.1:n.1544C>A