Canonical Allele Identifier: CA206508

Gene: MED17

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.93793780C>T , CM000673.2:g.93793780C>T	GRCh38
NC_000011.9:g.93526946C>T , CM000673.1:g.93526946C>T	GRCh37
NC_000011.8:g.93166594C>T	NCBI36
NG_028028.1:g.14542C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251871.9:c.690C>T MANE Select	ENSP00000251871.3:p.Leu230=
ENST00000507258.4:n.778C>T
ENST00000525026.6:n.911C>T
ENST00000528786.2:c.463C>T	ENSP00000433626.2:n.463C>T
ENST00000529626.2:n.607C>T
ENST00000533133.6:c.690C>T	ENSP00000433090.2:p.Leu230=
ENST00000638294.1:c.303C>T	ENSP00000491675.1:p.Leu101=
ENST00000638487.1:c.690C>T	ENSP00000492294.1:p.Leu230=
ENST00000638518.1:c.353+5613C>T
ENST00000638767.1:c.1251C>T	ENSP00000492220.1:p.Leu417=
ENST00000638790.1:c.528C>T	ENSP00000491457.1:p.Leu176=
ENST00000639189.1:c.690C>T	ENSP00000491770.1:p.Leu230=
ENST00000639457.1:c.690C>T	ENSP00000492391.1:p.Leu230=
ENST00000639523.1:c.625C>T
ENST00000639596.1:c.690C>T	ENSP00000491918.1:p.Leu230=
ENST00000639724.1:c.690C>T	ENSP00000492625.1:p.Leu230=
ENST00000640027.1:c.690C>T	ENSP00000492872.1:p.Leu230=
ENST00000640077.1:c.384C>T	ENSP00000490968.1:p.Leu128=
ENST00000640451.1:c.690C>T	ENSP00000492530.1:p.Leu230=
ENST00000640473.1:c.251-3755C>T	ENSP00000491371.1:n.251-3755C>T
ENST00000640521.1:c.690C>T	ENSP00000491108.1:p.Leu230=
ENST00000640583.1:n.977C>T
ENST00000640804.1:n.977C>T
ENST00000251871.7:c.690C>T	ENSP00000251871.3:p.Leu230=
ENST00000525026.5:n.2145C>T
ENST00000528786.1:c.366C>T	ENSP00000433626.1:p.Leu122=
ENST00000533133.5:c.690C>T	ENSP00000433090.1:p.Leu230=
NM_004268.4:c.690C>T	NP_004259.3:p.Leu230=
XM_011543068.1:c.690C>T	XP_011541370.1:p.Leu230=
XR_247218.1:n.924C>T
XR_947872.1:n.924C>T
NM_004268.5:c.690C>T MANE Select	NP_004259.3:p.Leu230=