Canonical Allele Identifier: CA384042894
Community Standard Title: NM_001987.5(ETV6):c.328+1G>T
Gene: ETV6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.11839305G>T , CM000674.2:g.11839305G>T GRCh38
NC_000012.11:g.11992239G>T , CM000674.1:g.11992239G>T GRCh37
NC_000012.10:g.11883506G>T NCBI36
NG_011443.1:g.194452G>T , LRG_609:g.194452G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001987.5:c.328+1G>T MANE Select NP_001978.1:n.328+1G>T
ENST00000396373.9:c.328+1G>T MANE Select ENSP00000379658.3:n.328+1G>T
NM_001987.4:c.328+1G>T , LRG_609t1:c.328+1G>T NP_001978.1:n.328+1G>T
ENST00000396373.8:c.328+1G>T ENSP00000379658.3:n.328+1G>T
ENST00000545027.1:c.244+1G>T ENSP00000441463.1:n.244+1G>T
XM_011520607.1:c.325+1G>T XP_011518909.1:n.325+1G>T
XM_011520607.2:c.325+1G>T XP_011518909.1:n.325+1G>T
XM_011520608.1:c.301+1G>T XP_011518910.1:n.301+1G>T
XM_011520608.2:c.301+1G>T XP_011518910.1:n.301+1G>T
XM_011520609.1:c.64+1G>T XP_011518911.1:n.64+1G>T
XM_011520609.2:c.64+1G>T XP_011518911.1:n.64+1G>T
XM_011520610.1:c.64+1G>T XP_011518912.1:n.64+1G>T
XM_011520611.1:c.64+1G>T XP_011518913.1:n.64+1G>T
XM_011520611.2:c.64+1G>T XP_011518913.1:n.64+1G>T
XM_017018990.1:c.328+1G>T XP_016874479.1:n.328+1G>T
XM_017018991.1:c.64+1G>T XP_016874480.1:n.64+1G>T