Canonical Allele Identifier: CA455869409

Gene: MLXIPL

Linked Data

• gnomAD v4: 7-73606043-C-A
• MyVariant Identifiers: chr7:g.73020373C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73606043C>A , CM000669.2:g.73606043C>A	GRCh38
NC_000007.13:g.73020373C>A , CM000669.1:g.73020373C>A	GRCh37
NC_000007.12:g.72658309C>A	NCBI36
NG_009307.1:g.23498G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456640.2:c.882G>T	ENSP00000402615.2:p.Leu294=
ENST00000313375.8:c.687G>T MANE Select	ENSP00000320886.3:p.Leu229=
ENST00000313375.7:c.687G>T	ENSP00000320886.3:p.Leu229=
ENST00000345114.9:c.687G>T	ENSP00000343767.5:p.Leu229=
ENST00000354613.5:c.687G>T	ENSP00000346629.1:p.Leu229=
ENST00000414749.6:c.687G>T	ENSP00000412330.2:p.Leu229=
ENST00000429400.6:c.687G>T	ENSP00000406296.2:p.Leu229=
ENST00000434326.5:c.526-118G>T	ENSP00000392636.1:n.526-118G>T
ENST00000453275.1:c.401-6348G>T	ENSP00000395172.1:n.401-6348G>T
ENST00000456640.1:c.573G>T	ENSP00000402615.1:p.Leu191=
ENST00000476404.5:n.782G>T
ENST00000488212.1:n.216G>T
NM_032951.2:c.687G>T	NP_116569.1:p.Leu229=
NM_032952.2:c.687G>T	NP_116570.1:p.Leu229=
NM_032953.2:c.687G>T	NP_116571.1:p.Leu229=
NM_032954.2:c.687G>T	NP_116572.1:p.Leu229=
XM_011516277.1:c.882G>T	XP_011514579.1:p.Leu294=
XM_011516278.1:c.882G>T	XP_011514580.1:p.Leu294=
XM_011516279.1:c.882G>T	XP_011514581.1:p.Leu294=
XM_011516280.1:c.401-6348G>T	XP_011514582.1:n.401-6348G>T
XR_927474.1:n.912G>T
XR_927475.1:n.717G>T
NR_134541.1:n.738G>T
XR_001744799.1:n.912G>T
NM_032951.3:c.687G>T MANE Select	NP_116569.1:p.Leu229=
NM_032952.3:c.687G>T	NP_116570.1:p.Leu229=
NM_032953.3:c.687G>T	NP_116571.1:p.Leu229=
NM_032954.3:c.687G>T	NP_116572.1:p.Leu229=
NR_134541.2:n.717G>T