Canonical Allele Identifier: CA6454349
Community Standard Title: NM_001987.5(ETV6):c.876C>G (p.Leu292=)
Gene: ETV6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.11869836C>G , CM000674.2:g.11869836C>G GRCh38
NC_000012.11:g.12022770C>G , CM000674.1:g.12022770C>G GRCh37
NC_000012.10:g.11914037C>G NCBI36
NG_011443.1:g.224983C>G , LRG_609:g.224983C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001987.5:c.876C>G MANE Select NP_001978.1:p.Leu292=
ENST00000396373.9:c.876C>G MANE Select ENSP00000379658.3:p.Leu292=
NM_001987.4:c.876C>G , LRG_609t1:c.876C>G NP_001978.1:p.Leu292=
ENST00000396373.8:c.876C>G ENSP00000379658.3:p.Leu292=
XM_011520607.1:c.873C>G XP_011518909.1:p.Leu291=
XM_011520607.2:c.873C>G XP_011518909.1:p.Leu291=
XM_011520608.1:c.849C>G XP_011518910.1:p.Leu283=
XM_011520608.2:c.849C>G XP_011518910.1:p.Leu283=
XM_011520609.1:c.612C>G XP_011518911.1:p.Leu204=
XM_011520609.2:c.612C>G XP_011518911.1:p.Leu204=
XM_011520610.1:c.612C>G XP_011518912.1:p.Leu204=
XM_011520611.1:c.612C>G XP_011518913.1:p.Leu204=
XM_011520611.2:c.612C>G XP_011518913.1:p.Leu204=
XM_011520612.1:c.255C>G XP_011518914.1:p.Leu85=
XM_011520612.2:c.255C>G XP_011518914.1:p.Leu85=
XM_017018990.1:c.741C>G XP_016874479.1:p.Leu247=
XM_017018991.1:c.612C>G XP_016874480.1:p.Leu204=