Canonical Allele Identifier: CA382357234

Gene: MED17

Linked Data

• MyVariant Identifiers: chr11:g.93529582A>T (hg19) ; chr11:g.93796416A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.93796416A>T , CM000673.2:g.93796416A>T	GRCh38
NC_000011.9:g.93529582A>T , CM000673.1:g.93529582A>T	GRCh37
NC_000011.8:g.93169230A>T	NCBI36
NG_028028.1:g.17178A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251871.9:c.1019A>T MANE Select	ENSP00000251871.3:p.Gln340Leu
ENST00000507258.4:n.2732A>T
ENST00000525026.6:n.1326A>T
ENST00000529626.2:n.1022A>T
ENST00000531920.6:n.320A>T
ENST00000533133.6:c.1019A>T	ENSP00000433090.2:p.Gln340Leu
ENST00000533367.6:n.57A>T
ENST00000638294.1:c.632A>T	ENSP00000491675.1:p.Gln211Leu
ENST00000638487.1:c.*345A>T	ENSP00000492294.1:n.*345A>T
ENST00000638518.1:c.354-5419A>T
ENST00000638767.1:c.1580A>T	ENSP00000492220.1:p.Gln527Leu
ENST00000638790.1:c.1047A>T	ENSP00000491457.1:n.1047A>T
ENST00000639189.1:c.1019A>T	ENSP00000491770.1:p.Gln340Leu
ENST00000639457.1:c.*345A>T	ENSP00000492391.1:n.*345A>T
ENST00000639523.1:c.954A>T
ENST00000639596.1:c.1019A>T	ENSP00000491918.1:p.Gln340Leu
ENST00000639724.1:c.1019A>T	ENSP00000492625.1:p.Gln340Leu
ENST00000640027.1:c.1019A>T	ENSP00000492872.1:p.Gln340Leu
ENST00000640077.1:c.554-521A>T	ENSP00000490968.1:n.554-521A>T
ENST00000640451.1:c.866A>T	ENSP00000492530.1:p.Gln289Leu
ENST00000640473.1:c.251-1119A>T	ENSP00000491371.1:n.251-1119A>T
ENST00000640521.1:c.1019A>T	ENSP00000491108.1:p.Gln340Leu
ENST00000640583.1:n.1582A>T
ENST00000640804.1:n.1392A>T
ENST00000251871.7:c.1019A>T	ENSP00000251871.3:p.Gln340Leu
ENST00000507258.3:n.350A>T
ENST00000525026.5:n.2474A>T
ENST00000531920.5:n.320A>T
ENST00000533133.5:c.*304A>T	ENSP00000433090.1:n.*304A>T
ENST00000533367.5:n.72A>T
NM_004268.4:c.1019A>T	NP_004259.3:p.Gln340Leu
XM_011543068.1:c.1019A>T	XP_011541370.1:p.Gln340Leu
XR_247218.1:n.1253A>T
XR_947872.1:n.1253A>T
NM_004268.5:c.1019A>T MANE Select	NP_004259.3:p.Gln340Leu