Canonical Allele Identifier: CA412066331
Community Standard Title: NM_078629.4(MSL3):c.1171A>C (p.Lys391Gln)
Gene: MSL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.11765729A>C , CM000685.2:g.11765729A>C GRCh38
NC_000023.10:g.11783848A>C , CM000685.1:g.11783848A>C GRCh37
NC_000023.9:g.11693769A>C NCBI36
NG_012564.1:g.12571A>C

Transcript Alleles

HGVS Amino-acid Change
NM_078629.4:c.1171A>C MANE Select NP_523353.2:p.Lys391Gln
ENST00000312196.10:c.1171A>C MANE Select ENSP00000312244.4:p.Lys391Gln
NM_001193270.2:c.1135A>C NP_001180199.1:p.Lys379Gln
NM_001282174.1:c.724A>C NP_001269103.1:p.Lys242Gln
NM_006800.3:c.673A>C NP_006791.2:p.Lys225Gln
NM_006800.4:c.673A>C NP_006791.2:p.Lys225Gln
NM_078628.1:c.1171A>C NP_523352.1:p.Ser391Arg
NM_078628.2:c.1171A>C NP_523352.1:p.Ser391Arg
NM_078629.3:c.1171A>C NP_523353.2:p.Lys391Gln
ENST00000312196.8:c.1171A>C ENSP00000312244.4:p.Lys391Gln
ENST00000337339.6:c.1171A>C ENSP00000338078.2:p.Ser391Arg
ENST00000337339.7:c.1171A>C ENSP00000338078.2:p.Ser391Arg
ENST00000361672.6:c.724A>C ENSP00000354562.2:p.Lys242Gln
ENST00000380691.2:c.477A>C ENSP00000370067.2:n.477A>C
ENST00000380691.3:c.477A>C ENSP00000370067.2:n.477A>C
ENST00000380693.7:c.673A>C ENSP00000370069.3:p.Lys225Gln
ENST00000380693.8:c.670A>C ENSP00000370069.4:p.Lys224Gln
ENST00000398527.6:c.1135A>C ENSP00000381538.2:p.Lys379Gln
ENST00000398527.7:c.1135A>C ENSP00000381538.2:p.Lys379Gln
ENST00000467141.1:n.69A>C
ENST00000467141.2:c.192A>C
ENST00000468149.5:c.*704A>C ENSP00000418673.1:n.*704A>C
ENST00000473380.2:n.2988A>C
ENST00000482871.6:c.673A>C ENSP00000498064.1:p.Lys225Gln
ENST00000647599.1:c.192A>C
ENST00000647701.1:n.2713A>C
ENST00000647839.1:c.192A>C
ENST00000647857.1:c.1171A>C ENSP00000497753.1:p.Lys391Gln
ENST00000647869.1:c.1168A>C ENSP00000497615.1:p.Lys390Gln
ENST00000647985.1:n.3454A>C
ENST00000648013.1:c.673A>C ENSP00000497518.1:p.Lys225Gln
ENST00000648207.1:n.2745A>C
ENST00000648287.1:c.192A>C
ENST00000648545.1:c.192A>C
ENST00000648614.1:c.*467A>C ENSP00000497799.1:n.*467A>C
ENST00000648656.1:c.192A>C
ENST00000648692.1:c.192A>C
ENST00000648889.1:n.2294A>C
ENST00000648918.1:n.3814A>C
ENST00000649078.1:c.673A>C ENSP00000498017.1:p.Lys225Gln
ENST00000649130.1:c.1071A>C
ENST00000649271.1:c.673A>C ENSP00000496967.1:p.Lys225Gln
ENST00000649308.1:n.1239A>C
ENST00000649420.1:c.132A>C
ENST00000649602.1:c.673A>C ENSP00000498168.1:p.Lys225Gln
ENST00000649649.1:c.724A>C ENSP00000497137.1:p.Lys242Gln
ENST00000649684.1:n.2756A>C
ENST00000649685.1:c.724A>C ENSP00000497496.1:p.Lys242Gln
ENST00000649785.1:c.673A>C ENSP00000496803.1:p.Asn225His
ENST00000649797.1:c.673A>C ENSP00000498062.1:p.Thr225Pro
ENST00000649851.1:c.673A>C ENSP00000497132.1:p.Ser225Arg
ENST00000649988.1:n.3846A>C
ENST00000650050.1:n.2234A>C
ENST00000650106.1:c.192A>C
ENST00000650215.1:c.724A>C ENSP00000496944.1:p.Lys242Gln
ENST00000650370.1:c.*977A>C ENSP00000498088.1:n.*977A>C
ENST00000650628.1:c.673A>C ENSP00000496838.1:p.Lys225Gln
XM_005274440.2:c.673A>C XP_005274497.1:p.Lys225Gln
XM_005274440.3:c.673A>C XP_005274497.1:p.Lys225Gln
XM_006724461.1:c.724A>C XP_006724524.1:p.Lys242Gln
XM_011545442.1:c.1171A>C XP_011543744.1:p.Thr391Pro
XM_011545442.3:c.1171A>C XP_011543744.1:p.Thr391Pro
XM_011545443.1:c.1171A>C XP_011543745.1:p.Thr391Pro
XM_011545444.1:c.1171A>C XP_011543746.1:p.Thr391Pro
XR_001755649.2:n.1223A>C