Canonical Allele Identifier: CA384044825

Gene: ETV6

Linked Data

• MyVariant Identifiers: chr12:g.12038872A>C (hg19) ; chr12:g.11885938A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11885938A>C , CM000674.2:g.11885938A>C	GRCh38
NC_000012.11:g.12038872A>C , CM000674.1:g.12038872A>C	GRCh37
NC_000012.10:g.11930139A>C	NCBI36
NG_011443.1:g.241085A>C , LRG_609:g.241085A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1165A>C MANE Select	ENSP00000379658.3:p.Met389Leu
ENST00000266427.3:c.2A>C
ENST00000396373.8:c.1165A>C	ENSP00000379658.3:p.Met389Leu
NM_001987.4:c.1165A>C , LRG_609t1:c.1165A>C	NP_001978.1:p.Met389Leu
XM_011520607.1:c.1162A>C	XP_011518909.1:p.Met388Leu
XM_011520608.1:c.1138A>C	XP_011518910.1:p.Met380Leu
XM_011520609.1:c.901A>C	XP_011518911.1:p.Met301Leu
XM_011520610.1:c.901A>C	XP_011518912.1:p.Met301Leu
XM_011520611.1:c.901A>C	XP_011518913.1:p.Met301Leu
XM_011520612.1:c.544A>C	XP_011518914.1:p.Met182Leu
XM_011520607.2:c.1162A>C	XP_011518909.1:p.Met388Leu
XM_011520608.2:c.1138A>C	XP_011518910.1:p.Met380Leu
XM_011520609.2:c.901A>C	XP_011518911.1:p.Met301Leu
XM_011520611.2:c.901A>C	XP_011518913.1:p.Met301Leu
XM_011520612.2:c.544A>C	XP_011518914.1:p.Met182Leu
XM_017018990.1:c.1030A>C	XP_016874479.1:p.Met344Leu
XM_017018991.1:c.901A>C	XP_016874480.1:p.Met301Leu
NM_001987.5:c.1165A>C MANE Select	NP_001978.1:p.Met389Leu