Canonical Allele Identifier: CA382355948

Gene: MED17

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.93793796A>T , CM000673.2:g.93793796A>T	GRCh38
NC_000011.9:g.93526962A>T , CM000673.1:g.93526962A>T	GRCh37
NC_000011.8:g.93166610A>T	NCBI36
NG_028028.1:g.14558A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251871.9:c.706A>T MANE Select	ENSP00000251871.3:p.Ile236Leu
ENST00000507258.4:n.794A>T
ENST00000525026.6:n.927A>T
ENST00000528786.2:c.479A>T	ENSP00000433626.2:n.479A>T
ENST00000529626.2:n.623A>T
ENST00000533133.6:c.706A>T	ENSP00000433090.2:p.Ile236Leu
ENST00000638294.1:c.319A>T	ENSP00000491675.1:p.Ile107Leu
ENST00000638487.1:c.706A>T	ENSP00000492294.1:p.Ile236Leu
ENST00000638518.1:c.353+5629A>T
ENST00000638767.1:c.1267A>T	ENSP00000492220.1:p.Ile423Leu
ENST00000638790.1:c.544A>T	ENSP00000491457.1:p.Ile182Leu
ENST00000639189.1:c.706A>T	ENSP00000491770.1:p.Ile236Leu
ENST00000639457.1:c.706A>T	ENSP00000492391.1:p.Ile236Leu
ENST00000639523.1:c.641A>T
ENST00000639596.1:c.706A>T	ENSP00000491918.1:p.Ile236Leu
ENST00000639724.1:c.706A>T	ENSP00000492625.1:p.Ile236Leu
ENST00000640027.1:c.706A>T	ENSP00000492872.1:p.Ile236Leu
ENST00000640077.1:c.400A>T	ENSP00000490968.1:p.Ile134Leu
ENST00000640451.1:c.706A>T	ENSP00000492530.1:p.Ile236Leu
ENST00000640473.1:c.251-3739A>T	ENSP00000491371.1:n.251-3739A>T
ENST00000640521.1:c.706A>T	ENSP00000491108.1:p.Ile236Leu
ENST00000640583.1:n.993A>T
ENST00000640804.1:n.993A>T
ENST00000251871.7:c.706A>T	ENSP00000251871.3:p.Ile236Leu
ENST00000525026.5:n.2161A>T
ENST00000528786.1:c.382A>T	ENSP00000433626.1:p.Ile128Leu
ENST00000533133.5:c.706A>T	ENSP00000433090.1:p.Ile236Leu
NM_004268.4:c.706A>T	NP_004259.3:p.Ile236Leu
XM_011543068.1:c.706A>T	XP_011541370.1:p.Ile236Leu
XR_247218.1:n.940A>T
XR_947872.1:n.940A>T
NM_004268.5:c.706A>T MANE Select	NP_004259.3:p.Ile236Leu