Canonical Allele Identifier: CA455867963

Gene: MLXIPL

Linked Data

• dbSNP Id: rs1279152337
• gnomAD v2: 7-73013907-C-A
• gnomAD v3: 7-73599577-C-A
• gnomAD v4: 7-73599577-C-A
• MyVariant Identifiers: chr7:g.73013907C>A (hg19) ; chr7:g.73599577C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73599577C>A , CM000669.2:g.73599577C>A	GRCh38
NC_000007.13:g.73013907C>A , CM000669.1:g.73013907C>A	GRCh37
NC_000007.12:g.72651843C>A	NCBI36
NG_009307.1:g.29964G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313375.8:c.1020G>T MANE Select	ENSP00000320886.3:p.Val340=
ENST00000313375.7:c.1020G>T	ENSP00000320886.3:p.Val340=
ENST00000345114.9:c.1020G>T	ENSP00000343767.5:p.Val340=
ENST00000354613.5:c.1020G>T	ENSP00000346629.1:p.Val340=
ENST00000414749.6:c.1020G>T	ENSP00000412330.2:p.Val340=
ENST00000429400.6:c.1020G>T	ENSP00000406296.2:p.Val340=
ENST00000434326.5:c.741G>T	ENSP00000392636.1:p.Val247=
ENST00000453275.1:c.519G>T	ENSP00000395172.1:p.Val173=
ENST00000476404.5:n.1115G>T
NM_032951.2:c.1020G>T	NP_116569.1:p.Val340=
NM_032952.2:c.1020G>T	NP_116570.1:p.Val340=
NM_032953.2:c.1020G>T	NP_116571.1:p.Val340=
NM_032954.2:c.1020G>T	NP_116572.1:p.Val340=
XM_011516277.1:c.1215G>T	XP_011514579.1:p.Val405=
XM_011516278.1:c.1215G>T	XP_011514580.1:p.Val405=
XM_011516279.1:c.1215G>T	XP_011514581.1:p.Val405=
XM_011516280.1:c.519G>T	XP_011514582.1:p.Val173=
XM_011516281.1:c.192G>T	XP_011514583.1:p.Val64=
XR_927474.1:n.1245G>T
XR_927475.1:n.1050G>T
NR_134541.1:n.1071G>T
XM_011516281.2:c.192G>T	XP_011514583.1:p.Val64=
XM_017012263.1:c.111G>T	XP_016867752.1:p.Val37=
XM_024446784.1:c.192G>T	XP_024302552.1:p.Val64=
XR_001744799.1:n.1245G>T
NM_032951.3:c.1020G>T MANE Select	NP_116569.1:p.Val340=
NM_032952.3:c.1020G>T	NP_116570.1:p.Val340=
NM_032953.3:c.1020G>T	NP_116571.1:p.Val340=
NM_032954.3:c.1020G>T	NP_116572.1:p.Val340=
NR_134541.2:n.1050G>T