Canonical Allele Identifier: CA7342907

Gene: EML1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.99939260A>C , CM000676.2:g.99939260A>C	GRCh38
NC_000014.8:g.100405597A>C , CM000676.1:g.100405597A>C	GRCh37
NC_000014.7:g.99475350A>C	NCBI36
NG_052827.1:g.206562A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262233.11:c.2255A>C MANE Select	ENSP00000262233.7:p.Lys752Thr
ENST00000649352.1:c.2330A>C	ENSP00000498100.1:p.Lys777Thr
ENST00000262233.10:c.2255A>C	ENSP00000262233.6:p.Lys752Thr
ENST00000327921.13:c.2219A>C	ENSP00000327384.9:p.Lys740Thr
ENST00000334192.8:c.2312A>C	ENSP00000334314.4:p.Lys771Thr
ENST00000553313.1:n.328A>C
NM_001008707.1:c.2312A>C	NP_001008707.1:p.Lys771Thr
NM_004434.2:c.2255A>C	NP_004425.2:p.Lys752Thr
XM_005267397.1:c.2312A>C	XP_005267454.1:p.Lys771Thr
XM_005267398.3:c.2273A>C	XP_005267455.1:p.Lys758Thr
XM_005267399.3:c.2330A>C	XP_005267456.2:p.Lys777Thr
XM_005267400.3:c.2216A>C	XP_005267457.1:p.Lys739Thr
XM_011536540.1:c.2273A>C	XP_011534842.1:p.Lys758Thr
XM_011536541.1:c.2219A>C	XP_011534843.1:p.Lys740Thr
XM_011536542.1:c.2198A>C	XP_011534844.1:p.Lys733Thr
XM_005267399.4:c.2330A>C	XP_005267456.2:p.Lys777Thr
XM_005267400.4:c.2216A>C	XP_005267457.1:p.Lys739Thr
XM_011536540.2:c.2273A>C	XP_011534842.1:p.Lys758Thr
XM_011536542.3:c.2198A>C	XP_011534844.1:p.Lys733Thr
XM_017021074.2:c.2123A>C	XP_016876563.1:p.Lys708Thr
XM_024449507.1:c.1691A>C	XP_024305275.1:p.Lys564Thr
NM_001008707.2:c.2312A>C	NP_001008707.1:p.Lys771Thr
NM_001375411.1:c.2216A>C	NP_001362340.1:p.Lys739Thr
NM_001375412.1:c.2123A>C	NP_001362341.1:p.Lys708Thr
NM_004434.3:c.2255A>C MANE Select	NP_004425.2:p.Lys752Thr