Canonical Allele Identifier: CA367828805
Gene: MLXIPL HGNC NCBI

Linked Data

gnomAD v4: 7-73606084-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73606084G>T , CM000669.2:g.73606084G>T GRCh38
NC_000007.13:g.73020414G>T , CM000669.1:g.73020414G>T GRCh37
NC_000007.12:g.72658350G>T NCBI36
NG_009307.1:g.23457C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000456640.2:c.841C>A ENSP00000402615.2:p.Gln281Lys
ENST00000313375.8:c.646C>A MANE Select ENSP00000320886.3:p.Gln216Lys
ENST00000313375.7:c.646C>A ENSP00000320886.3:p.Gln216Lys
ENST00000345114.9:c.646C>A ENSP00000343767.5:p.Gln216Lys
ENST00000354613.5:c.646C>A ENSP00000346629.1:p.Gln216Lys
ENST00000414749.6:c.646C>A ENSP00000412330.2:p.Gln216Lys
ENST00000429400.6:c.646C>A ENSP00000406296.2:p.Gln216Lys
ENST00000434326.5:c.526-159C>A ENSP00000392636.1:n.526-159C>A
ENST00000453275.1:c.401-6389C>A ENSP00000395172.1:n.401-6389C>A
ENST00000456640.1:c.532C>A ENSP00000402615.1:p.Gln178Lys
ENST00000476404.5:n.741C>A
ENST00000488212.1:n.175C>A
NM_032951.2:c.646C>A NP_116569.1:p.Gln216Lys
NM_032952.2:c.646C>A NP_116570.1:p.Gln216Lys
NM_032953.2:c.646C>A NP_116571.1:p.Gln216Lys
NM_032954.2:c.646C>A NP_116572.1:p.Gln216Lys
XM_011516277.1:c.841C>A XP_011514579.1:p.Gln281Lys
XM_011516278.1:c.841C>A XP_011514580.1:p.Gln281Lys
XM_011516279.1:c.841C>A XP_011514581.1:p.Gln281Lys
XM_011516280.1:c.401-6389C>A XP_011514582.1:n.401-6389C>A
XR_927474.1:n.871C>A
XR_927475.1:n.676C>A
NR_134541.1:n.697C>A
XR_001744799.1:n.871C>A
NM_032951.3:c.646C>A MANE Select NP_116569.1:p.Gln216Lys
NM_032952.3:c.646C>A NP_116570.1:p.Gln216Lys
NM_032953.3:c.646C>A NP_116571.1:p.Gln216Lys
NM_032954.3:c.646C>A NP_116572.1:p.Gln216Lys
NR_134541.2:n.676C>A