Canonical Allele Identifier: CA478767233

Gene: ETV6

Linked Data

• MyVariant Identifiers: chr12:g.12038940A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11886006A>T , CM000674.2:g.11886006A>T	GRCh38
NC_000012.11:g.12038940A>T , CM000674.1:g.12038940A>T	GRCh37
NC_000012.10:g.11930207A>T	NCBI36
NG_011443.1:g.241153A>T , LRG_609:g.241153A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1233A>T MANE Select	ENSP00000379658.3:p.Pro411=
ENST00000266427.3:c.70A>T
ENST00000396373.8:c.1233A>T	ENSP00000379658.3:p.Pro411=
NM_001987.4:c.1233A>T , LRG_609t1:c.1233A>T	NP_001978.1:p.Pro411=
XM_011520607.1:c.1230A>T	XP_011518909.1:p.Pro410=
XM_011520608.1:c.1206A>T	XP_011518910.1:p.Pro402=
XM_011520609.1:c.969A>T	XP_011518911.1:p.Pro323=
XM_011520610.1:c.969A>T	XP_011518912.1:p.Pro323=
XM_011520611.1:c.969A>T	XP_011518913.1:p.Pro323=
XM_011520612.1:c.612A>T	XP_011518914.1:p.Pro204=
XM_011520607.2:c.1230A>T	XP_011518909.1:p.Pro410=
XM_011520608.2:c.1206A>T	XP_011518910.1:p.Pro402=
XM_011520609.2:c.969A>T	XP_011518911.1:p.Pro323=
XM_011520611.2:c.969A>T	XP_011518913.1:p.Pro323=
XM_011520612.2:c.612A>T	XP_011518914.1:p.Pro204=
XM_017018990.1:c.1098A>T	XP_016874479.1:p.Pro366=
XM_017018991.1:c.969A>T	XP_016874480.1:p.Pro323=
NM_001987.5:c.1233A>T MANE Select	NP_001978.1:p.Pro411=