Canonical Allele Identifier: CA12590083
Gene: MLXIPL HGNC NCBI

Linked Data

dbSNP Id: rs7800944
gnomAD v2: 7-73035857-T-C
gnomAD v3: 7-73621527-T-C
gnomAD v4: 7-73621527-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73621527T>C , CM000669.2:g.73621527T>C GRCh38
NC_000007.13:g.73035857T>C , CM000669.1:g.73035857T>C GRCh37
NC_000007.12:g.72673793T>C NCBI36
NG_009307.1:g.8014A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000456640.2:c.293+2673A>G ENSP00000402615.2:n.293+2673A>G
ENST00000313375.8:c.293+2673A>G MANE Select ENSP00000320886.3:n.293+2673A>G
ENST00000313375.7:c.293+2673A>G ENSP00000320886.3:n.293+2673A>G
ENST00000345114.9:c.293+2673A>G ENSP00000343767.5:n.293+2673A>G
ENST00000354613.5:c.293+2673A>G ENSP00000346629.1:n.293+2673A>G
ENST00000414749.6:c.293+2673A>G ENSP00000412330.2:n.293+2673A>G
ENST00000429400.6:c.293+2673A>G ENSP00000406296.2:n.293+2673A>G
ENST00000434326.5:c.293+2673A>G ENSP00000392636.1:n.293+2673A>G
ENST00000453275.1:c.293+2673A>G ENSP00000395172.1:n.293+2673A>G
NM_032951.2:c.293+2673A>G NP_116569.1:n.293+2673A>G
NM_032952.2:c.293+2673A>G NP_116570.1:n.293+2673A>G
NM_032953.2:c.293+2673A>G NP_116571.1:n.293+2673A>G
NM_032954.2:c.293+2673A>G NP_116572.1:n.293+2673A>G
XM_011516277.1:c.293+2673A>G XP_011514579.1:n.293+2673A>G
XM_011516278.1:c.293+2673A>G XP_011514580.1:n.293+2673A>G
XM_011516279.1:c.293+2673A>G XP_011514581.1:n.293+2673A>G
XM_011516280.1:c.293+2673A>G XP_011514582.1:n.293+2673A>G
XR_927474.1:n.323+2673A>G
XR_927475.1:n.323+2673A>G
NR_134541.1:n.344+2673A>G
XR_001744799.1:n.323+2673A>G
NM_032951.3:c.293+2673A>G MANE Select NP_116569.1:n.293+2673A>G
NM_032952.3:c.293+2673A>G NP_116570.1:n.293+2673A>G
NM_032953.3:c.293+2673A>G NP_116571.1:n.293+2673A>G
NM_032954.3:c.293+2673A>G NP_116572.1:n.293+2673A>G
NR_134541.2:n.323+2673A>G