Canonical Allele Identifier: CA4700220

Gene: MBOAT4 LEPROTL1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.30132685C>T , CM000670.2:g.30132685C>T	GRCh38
NC_000008.10:g.29990201C>T , CM000670.1:g.29990201C>T	GRCh37
NC_000008.9:g.30109743C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320542.4:c.566G>A (MBOAT4) MANE Select	ENSP00000314196.3:p.Arg189His
ENST00000320542.3:c.566G>A (MBOAT4)	ENSP00000314196.3:p.Arg189His
ENST00000442880.6:c.394+196C>T (LEPROTL1)	ENSP00000412803.2:n.394+196C>T
ENST00000520739.5:c.279+28199C>T (LEPROTL1)	ENSP00000429398.1:n.279+28199C>T
ENST00000523116.5:c.280-4587C>T (LEPROTL1)	ENSP00000428281.1:n.280-4587C>T
NM_001100916.1:c.566G>A (MBOAT4)	NP_001094386.1:p.Arg189His
NM_001128208.1:c.280-4587C>T (LEPROTL1)	NP_001121680.1:n.280-4587C>T
XM_011544609.1:c.566G>A (MBOAT4)	XP_011542911.1:p.Arg189His
XM_017013726.1:c.566G>A (MBOAT4)	XP_016869215.1:p.Arg189His
NM_001100916.2:c.566G>A (MBOAT4) MANE Select	NP_001094386.1:p.Arg189His
NM_001128208.2:c.280-4587C>T (LEPROTL1)	NP_001121680.1:n.280-4587C>T