Canonical Allele Identifier: CA160063439

Gene: MLXIPL

Linked Data

• dbSNP Id: rs1052534981
• gnomAD v2: 7-73020379-G-A
• gnomAD v3: 7-73606049-G-A
• gnomAD v4: 7-73606049-G-A
• MyVariant Identifiers: chr7:g.73020379G>A (hg19) ; chr7:g.73606049G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73606049G>A , CM000669.2:g.73606049G>A	GRCh38
NC_000007.13:g.73020379G>A , CM000669.1:g.73020379G>A	GRCh37
NC_000007.12:g.72658315G>A	NCBI36
NG_009307.1:g.23492C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456640.2:c.876C>T	ENSP00000402615.2:p.Pro292=
ENST00000313375.8:c.681C>T MANE Select	ENSP00000320886.3:p.Pro227=
ENST00000313375.7:c.681C>T	ENSP00000320886.3:p.Pro227=
ENST00000345114.9:c.681C>T	ENSP00000343767.5:p.Pro227=
ENST00000354613.5:c.681C>T	ENSP00000346629.1:p.Pro227=
ENST00000414749.6:c.681C>T	ENSP00000412330.2:p.Pro227=
ENST00000429400.6:c.681C>T	ENSP00000406296.2:p.Pro227=
ENST00000434326.5:c.526-124C>T	ENSP00000392636.1:n.526-124C>T
ENST00000453275.1:c.401-6354C>T	ENSP00000395172.1:n.401-6354C>T
ENST00000456640.1:c.567C>T	ENSP00000402615.1:p.Pro189=
ENST00000476404.5:n.776C>T
ENST00000488212.1:n.210C>T
NM_032951.2:c.681C>T	NP_116569.1:p.Pro227=
NM_032952.2:c.681C>T	NP_116570.1:p.Pro227=
NM_032953.2:c.681C>T	NP_116571.1:p.Pro227=
NM_032954.2:c.681C>T	NP_116572.1:p.Pro227=
XM_011516277.1:c.876C>T	XP_011514579.1:p.Pro292=
XM_011516278.1:c.876C>T	XP_011514580.1:p.Pro292=
XM_011516279.1:c.876C>T	XP_011514581.1:p.Pro292=
XM_011516280.1:c.401-6354C>T	XP_011514582.1:n.401-6354C>T
XR_927474.1:n.906C>T
XR_927475.1:n.711C>T
NR_134541.1:n.732C>T
XR_001744799.1:n.906C>T
NM_032951.3:c.681C>T MANE Select	NP_116569.1:p.Pro227=
NM_032952.3:c.681C>T	NP_116570.1:p.Pro227=
NM_032953.3:c.681C>T	NP_116571.1:p.Pro227=
NM_032954.3:c.681C>T	NP_116572.1:p.Pro227=
NR_134541.2:n.711C>T