Canonical Allele Identifier: CA8795283
Community Standard Title: NM_001127198.5(TMC6):c.2384C>T (p.Pro795Leu)
Gene: TMC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78113182G>A , CM000679.2:g.78113182G>A GRCh38
NC_000017.10:g.76109263G>A , CM000679.1:g.76109263G>A GRCh37
NC_000017.9:g.73620858G>A NCBI36
NG_007879.1:g.24226C>T , LRG_118:g.24226C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001127198.5:c.2384C>T MANE Select NP_001120670.1:p.Pro795Leu
ENST00000590602.6:c.2384C>T MANE Select ENSP00000465261.1:p.Pro795Leu
NM_001127198.1:c.2384C>T NP_001120670.1:p.Pro795Leu
NM_001127198.2:c.2384C>T NP_001120670.1:p.Pro795Leu
NM_001321185.1:c.2384C>T NP_001308114.1:p.Pro795Leu
NM_001374593.1:c.2204C>T NP_001361522.1:p.Pro735Leu
NM_001374594.1:c.2204C>T NP_001361523.1:p.Pro735Leu
NM_001374596.1:c.2384C>T NP_001361525.1:p.Pro795Leu
NM_001375353.1:c.2384C>T NP_001362282.1:p.Pro795Leu
NM_001375354.1:c.2384C>T NP_001362283.1:p.Pro795Leu
NM_007267.6:c.2384C>T , LRG_118t1:c.2384C>T NP_009198.4:p.Pro795Leu
NM_007267.7:c.2384C>T NP_009198.4:p.Pro795Leu
NR_168288.1:n.2602C>T
NR_168289.1:n.2602C>T
NR_168290.1:n.2505C>T
NR_168291.1:n.2555C>T
ENST00000306591.11:c.1331C>T ENSP00000306405.6:p.Pro444Leu
ENST00000322914.7:c.2384C>T ENSP00000313408.2:p.Pro795Leu
ENST00000392467.7:c.2384C>T ENSP00000376260.2:p.Pro795Leu
ENST00000589271.6:c.2384C>T ENSP00000468255.2:p.Pro795Leu
ENST00000590494.1:n.442C>T
ENST00000590494.2:n.1598C>T
ENST00000590602.5:c.2384C>T ENSP00000465261.1:p.Pro795Leu
ENST00000591436.5:c.1121C>T ENSP00000464853.1:p.Pro374Leu
ENST00000592063.6:c.2384C>T ENSP00000466885.2:p.Pro795Leu
ENST00000592076.5:n.430C>T
ENST00000593044.5:n.2964C>T
ENST00000698544.1:n.180C>T
ENST00000698545.1:n.1861C>T
ENST00000698546.1:c.*2206C>T ENSP00000513789.1:n.*2206C>T
ENST00000698547.1:c.*1702C>T ENSP00000513790.1:n.*1702C>T
ENST00000698548.1:c.2204C>T ENSP00000513791.1:p.Pro735Leu
ENST00000698549.1:c.*2206C>T ENSP00000513792.1:n.*2206C>T
ENST00000698550.1:c.2384C>T ENSP00000513793.1:p.Pro795Leu
ENST00000698551.1:c.*105C>T ENSP00000513794.1:n.*105C>T
XM_005256995.1:c.2384C>T XP_005257052.1:p.Pro795Leu
XM_005256996.1:c.2384C>T XP_005257053.1:p.Pro795Leu
XM_005256997.1:c.2204C>T XP_005257054.1:p.Pro735Leu
XM_005256998.1:c.1703C>T XP_005257055.1:p.Pro568Leu
XM_011524255.1:c.2384C>T XP_011522557.1:p.Pro795Leu
XM_011524256.1:c.2258C>T XP_011522558.1:p.Pro753Leu
XM_011524257.1:c.1574C>T XP_011522559.1:p.Pro525Leu
XM_011524257.3:c.1574C>T XP_011522559.1:p.Pro525Leu
XM_011524258.1:c.1334C>T XP_011522560.1:p.Pro445Leu
XM_017024107.1:c.2204C>T XP_016879596.1:p.Pro735Leu
XM_017024108.1:c.2204C>T XP_016879597.1:p.Pro735Leu
XM_024450555.1:c.2384C>T XP_024306323.1:p.Pro795Leu
XM_024450556.1:c.2384C>T XP_024306324.1:p.Pro795Leu
XM_024450557.1:c.1703C>T XP_024306325.1:p.Pro568Leu
XR_001752420.1:n.2572C>T
XR_243632.1:n.2438C>T