Canonical Allele Identifier: CA16498836

Gene: EML1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.99878361T>C , CM000676.2:g.99878361T>C	GRCh38
NC_000014.8:g.100344698T>C , CM000676.1:g.100344698T>C	GRCh37
NC_000014.7:g.99414451T>C	NCBI36
NG_052827.1:g.145663T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004434.3:c.384-124T>C MANE Select	NP_004425.2:n.384-124T>C
ENST00000262233.11:c.384-124T>C MANE Select	ENSP00000262233.7:n.384-124T>C
NM_001008707.1:c.441-124T>C	NP_001008707.1:n.441-124T>C
NM_001008707.2:c.441-124T>C	NP_001008707.1:n.441-124T>C
NM_001375411.1:c.345-124T>C	NP_001362340.1:n.345-124T>C
NM_001375412.1:c.384-124T>C	NP_001362341.1:n.384-124T>C
NM_004434.2:c.384-124T>C	NP_004425.2:n.384-124T>C
ENST00000262233.10:c.384-124T>C	ENSP00000262233.6:n.384-124T>C
ENST00000327921.13:c.348-124T>C	ENSP00000327384.9:n.348-124T>C
ENST00000334192.8:c.441-124T>C	ENSP00000334314.4:n.441-124T>C
ENST00000554479.5:c.345-124T>C	ENSP00000451346.1:n.345-124T>C
ENST00000555096.5:c.*122-124T>C	ENSP00000451269.1:n.*122-124T>C
ENST00000555145.5:c.402-124T>C	ENSP00000452160.1:n.402-124T>C
ENST00000556714.5:c.291-124T>C	ENSP00000452089.1:n.291-124T>C
ENST00000556758.1:n.320-124T>C
ENST00000556835.5:c.291-124T>C	ENSP00000451669.1:n.291-124T>C
ENST00000557741.1:c.39-124T>C	ENSP00000452063.1:n.39-124T>C
ENST00000649352.1:c.459-124T>C	ENSP00000498100.1:n.459-124T>C
XM_005267397.1:c.384-124T>C	XP_005267454.1:n.384-124T>C
XM_005267398.3:c.345-124T>C	XP_005267455.1:n.345-124T>C
XM_005267399.3:c.402-124T>C	XP_005267456.2:n.402-124T>C
XM_005267399.4:c.402-124T>C	XP_005267456.2:n.402-124T>C
XM_005267400.3:c.345-124T>C	XP_005267457.1:n.345-124T>C
XM_005267400.4:c.345-124T>C	XP_005267457.1:n.345-124T>C
XM_011536540.1:c.402-124T>C	XP_011534842.1:n.402-124T>C
XM_011536540.2:c.402-124T>C	XP_011534842.1:n.402-124T>C
XM_011536541.1:c.291-124T>C	XP_011534843.1:n.291-124T>C
XM_011536542.1:c.402-124T>C	XP_011534844.1:n.402-124T>C
XM_011536542.3:c.402-124T>C	XP_011534844.1:n.402-124T>C
XM_017021074.2:c.384-124T>C	XP_016876563.1:n.384-124T>C
XM_024449507.1:c.-238-124T>C	XP_024305275.1:n.-238-124T>C