Canonical Allele Identifier: CA390958242

Gene: EML1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.99894754T>A , CM000676.2:g.99894754T>A	GRCh38
NC_000014.8:g.100361091T>A , CM000676.1:g.100361091T>A	GRCh37
NC_000014.7:g.99430844T>A	NCBI36
NG_052827.1:g.162056T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697131.1:c.212T>A
ENST00000262233.11:c.673T>A MANE Select	ENSP00000262233.7:p.Trp225Arg
ENST00000649352.1:c.748T>A	ENSP00000498100.1:p.Trp250Arg
ENST00000262233.10:c.673T>A	ENSP00000262233.6:p.Trp225Arg
ENST00000327921.13:c.637T>A	ENSP00000327384.9:p.Trp213Arg
ENST00000334192.8:c.730T>A	ENSP00000334314.4:p.Trp244Arg
ENST00000554479.5:c.634T>A	ENSP00000451346.1:p.Trp212Arg
ENST00000555277.1:n.302T>A
ENST00000556714.5:c.580T>A	ENSP00000452089.1:p.Trp194Arg
NM_001008707.1:c.730T>A	NP_001008707.1:p.Trp244Arg
NM_004434.2:c.673T>A	NP_004425.2:p.Trp225Arg
XM_005267397.1:c.730T>A	XP_005267454.1:p.Trp244Arg
XM_005267398.3:c.691T>A	XP_005267455.1:p.Trp231Arg
XM_005267399.3:c.748T>A	XP_005267456.2:p.Trp250Arg
XM_005267400.3:c.634T>A	XP_005267457.1:p.Trp212Arg
XM_011536540.1:c.691T>A	XP_011534842.1:p.Trp231Arg
XM_011536541.1:c.637T>A	XP_011534843.1:p.Trp213Arg
XM_011536542.1:c.748T>A	XP_011534844.1:p.Trp250Arg
XM_005267399.4:c.748T>A	XP_005267456.2:p.Trp250Arg
XM_005267400.4:c.634T>A	XP_005267457.1:p.Trp212Arg
XM_011536540.2:c.691T>A	XP_011534842.1:p.Trp231Arg
XM_011536542.3:c.748T>A	XP_011534844.1:p.Trp250Arg
XM_017021074.2:c.673T>A	XP_016876563.1:p.Trp225Arg
XM_024449507.1:c.109T>A	XP_024305275.1:p.Trp37Arg
NM_001008707.2:c.730T>A	NP_001008707.1:p.Trp244Arg
NM_001375411.1:c.634T>A	NP_001362340.1:p.Trp212Arg
NM_001375412.1:c.673T>A	NP_001362341.1:p.Trp225Arg
NM_004434.3:c.673T>A MANE Select	NP_004425.2:p.Trp225Arg