Canonical Allele Identifier: CA14045493

Gene: EML1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.99914059A>T , CM000676.2:g.99914059A>T	GRCh38
NC_000014.8:g.100380396A>T , CM000676.1:g.100380396A>T	GRCh37
NC_000014.7:g.99450149A>T	NCBI36
NG_052827.1:g.181361A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004434.3:c.1495-120A>T MANE Select	NP_004425.2:n.1495-120A>T
ENST00000262233.11:c.1495-120A>T MANE Select	ENSP00000262233.7:n.1495-120A>T
NM_001008707.1:c.1552-120A>T	NP_001008707.1:n.1552-120A>T
NM_001008707.2:c.1552-120A>T	NP_001008707.1:n.1552-120A>T
NM_001375411.1:c.1456-120A>T	NP_001362340.1:n.1456-120A>T
NM_001375412.1:c.1495-120A>T	NP_001362341.1:n.1495-120A>T
NM_004434.2:c.1495-120A>T	NP_004425.2:n.1495-120A>T
ENST00000262233.10:c.1495-120A>T	ENSP00000262233.6:n.1495-120A>T
ENST00000327921.13:c.1459-120A>T	ENSP00000327384.9:n.1459-120A>T
ENST00000334192.8:c.1552-120A>T	ENSP00000334314.4:n.1552-120A>T
ENST00000554111.1:n.1253-120A>T
ENST00000649352.1:c.1570-120A>T	ENSP00000498100.1:n.1570-120A>T
XM_005267397.1:c.1552-120A>T	XP_005267454.1:n.1552-120A>T
XM_005267398.3:c.1513-120A>T	XP_005267455.1:n.1513-120A>T
XM_005267399.3:c.1570-120A>T	XP_005267456.2:n.1570-120A>T
XM_005267399.4:c.1570-120A>T	XP_005267456.2:n.1570-120A>T
XM_005267400.3:c.1456-120A>T	XP_005267457.1:n.1456-120A>T
XM_005267400.4:c.1456-120A>T	XP_005267457.1:n.1456-120A>T
XM_011536540.1:c.1513-120A>T	XP_011534842.1:n.1513-120A>T
XM_011536540.2:c.1513-120A>T	XP_011534842.1:n.1513-120A>T
XM_011536541.1:c.1459-120A>T	XP_011534843.1:n.1459-120A>T
XM_011536542.1:c.1570-120A>T	XP_011534844.1:n.1570-120A>T
XM_011536542.3:c.1570-120A>T	XP_011534844.1:n.1570-120A>T
XM_017021074.2:c.1495-120A>T	XP_016876563.1:n.1495-120A>T
XM_024449507.1:c.931-120A>T	XP_024305275.1:n.931-120A>T