Canonical Allele Identifier: CA4289427
Gene: MLXIPL HGNC NCBI

Linked Data

dbSNP Id: rs3812316
ExAC: 7:73020337 C / G
gnomAD v2: 7-73020337-C-G
gnomAD v3: 7-73606007-C-G
gnomAD v4: 7-73606007-C-G
MyVariant Identifiers: chr7:g.73020337C>G (hg19) chr7:g.73606007C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73606007C>G , CM000669.2:g.73606007C>G GRCh38
NC_000007.13:g.73020337C>G , CM000669.1:g.73020337C>G GRCh37
NC_000007.12:g.72658273C>G NCBI36
NG_009307.1:g.23534G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000456640.2:c.918G>C ENSP00000402615.2:p.Gln306His
ENST00000313375.8:c.723G>C MANE Select ENSP00000320886.3:p.Gln241His
ENST00000313375.7:c.723G>C ENSP00000320886.3:p.Gln241His
ENST00000345114.9:c.723G>C ENSP00000343767.5:p.Gln241His
ENST00000354613.5:c.723G>C ENSP00000346629.1:p.Gln241His
ENST00000414749.6:c.723G>C ENSP00000412330.2:p.Gln241His
ENST00000429400.6:c.723G>C ENSP00000406296.2:p.Gln241His
ENST00000434326.5:c.526-82G>C ENSP00000392636.1:n.526-82G>C
ENST00000453275.1:c.401-6312G>C ENSP00000395172.1:n.401-6312G>C
ENST00000456640.1:c.609G>C ENSP00000402615.1:p.Gln203His
ENST00000476404.5:n.818G>C
ENST00000488212.1:n.252G>C
NM_032951.2:c.723G>C NP_116569.1:p.Gln241His
NM_032952.2:c.723G>C NP_116570.1:p.Gln241His
NM_032953.2:c.723G>C NP_116571.1:p.Gln241His
NM_032954.2:c.723G>C NP_116572.1:p.Gln241His
XM_011516277.1:c.918G>C XP_011514579.1:p.Gln306His
XM_011516278.1:c.918G>C XP_011514580.1:p.Gln306His
XM_011516279.1:c.918G>C XP_011514581.1:p.Gln306His
XM_011516280.1:c.401-6312G>C XP_011514582.1:n.401-6312G>C
XR_927474.1:n.948G>C
XR_927475.1:n.753G>C
NR_134541.1:n.774G>C
XR_001744799.1:n.948G>C
NM_032951.3:c.723G>C MANE Select NP_116569.1:p.Gln241His
NM_032952.3:c.723G>C NP_116570.1:p.Gln241His
NM_032953.3:c.723G>C NP_116571.1:p.Gln241His
NM_032954.3:c.723G>C NP_116572.1:p.Gln241His
NR_134541.2:n.753G>C
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