Canonical Allele Identifier: CA384044815

Gene: ETV6

Linked Data

• MyVariant Identifiers: chr12:g.12038867C>A (hg19) ; chr12:g.11885933C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11885933C>A , CM000674.2:g.11885933C>A	GRCh38
NC_000012.11:g.12038867C>A , CM000674.1:g.12038867C>A	GRCh37
NC_000012.10:g.11930134C>A	NCBI36
NG_011443.1:g.241080C>A , LRG_609:g.241080C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1160C>A MANE Select	ENSP00000379658.3:p.Thr387Lys
ENST00000396373.8:c.1160C>A	ENSP00000379658.3:p.Thr387Lys
NM_001987.4:c.1160C>A , LRG_609t1:c.1160C>A	NP_001978.1:p.Thr387Lys
XM_011520607.1:c.1157C>A	XP_011518909.1:p.Thr386Lys
XM_011520608.1:c.1133C>A	XP_011518910.1:p.Thr378Lys
XM_011520609.1:c.896C>A	XP_011518911.1:p.Thr299Lys
XM_011520610.1:c.896C>A	XP_011518912.1:p.Thr299Lys
XM_011520611.1:c.896C>A	XP_011518913.1:p.Thr299Lys
XM_011520612.1:c.539C>A	XP_011518914.1:p.Thr180Lys
XM_011520607.2:c.1157C>A	XP_011518909.1:p.Thr386Lys
XM_011520608.2:c.1133C>A	XP_011518910.1:p.Thr378Lys
XM_011520609.2:c.896C>A	XP_011518911.1:p.Thr299Lys
XM_011520611.2:c.896C>A	XP_011518913.1:p.Thr299Lys
XM_011520612.2:c.539C>A	XP_011518914.1:p.Thr180Lys
XM_017018990.1:c.1025C>A	XP_016874479.1:p.Thr342Lys
XM_017018991.1:c.896C>A	XP_016874480.1:p.Thr299Lys
NM_001987.5:c.1160C>A MANE Select	NP_001978.1:p.Thr387Lys