Canonical Allele Identifier: CA367828412
Gene: MLXIPL HGNC NCBI

Linked Data

gnomAD v4: 7-73606018-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73606018C>A , CM000669.2:g.73606018C>A GRCh38
NC_000007.13:g.73020348C>A , CM000669.1:g.73020348C>A GRCh37
NC_000007.12:g.72658284C>A NCBI36
NG_009307.1:g.23523G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000456640.2:c.907G>T ENSP00000402615.2:p.Gly303Cys
ENST00000313375.8:c.712G>T MANE Select ENSP00000320886.3:p.Gly238Cys
ENST00000313375.7:c.712G>T ENSP00000320886.3:p.Gly238Cys
ENST00000345114.9:c.712G>T ENSP00000343767.5:p.Gly238Cys
ENST00000354613.5:c.712G>T ENSP00000346629.1:p.Gly238Cys
ENST00000414749.6:c.712G>T ENSP00000412330.2:p.Gly238Cys
ENST00000429400.6:c.712G>T ENSP00000406296.2:p.Gly238Cys
ENST00000434326.5:c.526-93G>T ENSP00000392636.1:n.526-93G>T
ENST00000453275.1:c.401-6323G>T ENSP00000395172.1:n.401-6323G>T
ENST00000456640.1:c.598G>T ENSP00000402615.1:p.Gly200Cys
ENST00000476404.5:n.807G>T
ENST00000488212.1:n.241G>T
NM_032951.2:c.712G>T NP_116569.1:p.Gly238Cys
NM_032952.2:c.712G>T NP_116570.1:p.Gly238Cys
NM_032953.2:c.712G>T NP_116571.1:p.Gly238Cys
NM_032954.2:c.712G>T NP_116572.1:p.Gly238Cys
XM_011516277.1:c.907G>T XP_011514579.1:p.Gly303Cys
XM_011516278.1:c.907G>T XP_011514580.1:p.Gly303Cys
XM_011516279.1:c.907G>T XP_011514581.1:p.Gly303Cys
XM_011516280.1:c.401-6323G>T XP_011514582.1:n.401-6323G>T
XR_927474.1:n.937G>T
XR_927475.1:n.742G>T
NR_134541.1:n.763G>T
XR_001744799.1:n.937G>T
NM_032951.3:c.712G>T MANE Select NP_116569.1:p.Gly238Cys
NM_032952.3:c.712G>T NP_116570.1:p.Gly238Cys
NM_032953.3:c.712G>T NP_116571.1:p.Gly238Cys
NM_032954.3:c.712G>T NP_116572.1:p.Gly238Cys
NR_134541.2:n.742G>T