Canonical Allele Identifier: CA365757990

Gene: MAP7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136361138C>T , CM000668.2:g.136361138C>T	GRCh38
NC_000006.11:g.136682276C>T , CM000668.1:g.136682276C>T	GRCh37
NC_000006.10:g.136723969C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003980.6:c.1568G>A MANE Select	NP_003971.1:p.Arg523Lys
ENST00000354570.8:c.1568G>A MANE Select	ENSP00000346581.2:p.Arg523Lys
NM_001198608.1:c.1634G>A	NP_001185537.1:p.Arg545Lys
NM_001198608.3:c.1634G>A	NP_001185537.1:p.Arg545Lys
NM_001198609.1:c.1658G>A	NP_001185538.1:p.Arg553Lys
NM_001198609.2:c.1658G>A	NP_001185538.1:p.Arg553Lys
NM_001198611.1:c.1523G>A	NP_001185540.1:p.Arg508Lys
NM_001198611.3:c.1523G>A	NP_001185540.1:p.Arg508Lys
NM_001198614.1:c.1634G>A	NP_001185543.1:p.Arg545Lys
NM_001198614.2:c.1634G>A	NP_001185543.1:p.Arg545Lys
NM_001198615.1:c.1523G>A	NP_001185544.1:p.Arg508Lys
NM_001198615.3:c.1523G>A	NP_001185544.1:p.Arg508Lys
NM_001198616.1:c.1457G>A	NP_001185545.1:p.Arg486Lys
NM_001198616.3:c.1457G>A	NP_001185545.1:p.Arg486Lys
NM_001198617.1:c.1286G>A	NP_001185546.1:p.Arg429Lys
NM_001198617.3:c.1286G>A	NP_001185546.1:p.Arg429Lys
NM_001198618.1:c.1130G>A	NP_001185547.1:p.Arg377Lys
NM_001198618.2:c.1130G>A	NP_001185547.1:p.Arg377Lys
NM_001198619.1:c.1130G>A	NP_001185548.1:p.Arg377Lys
NM_001198619.2:c.1130G>A	NP_001185548.1:p.Arg377Lys
NM_001388328.1:c.1658G>A	NP_001375257.1:p.Arg553Lys
NM_001388329.1:c.1658G>A	NP_001375258.1:p.Arg553Lys
NM_001388330.1:c.1658G>A	NP_001375259.1:p.Arg553Lys
NM_001388331.1:c.1655G>A	NP_001375260.1:p.Arg552Lys
NM_001388332.1:c.1634G>A	NP_001375261.1:p.Arg545Lys
NM_001388333.1:c.1634G>A	NP_001375262.1:p.Arg545Lys
NM_001388334.1:c.1592G>A	NP_001375263.1:p.Arg531Lys
NM_001388335.1:c.1589G>A	NP_001375264.1:p.Arg530Lys
NM_001388336.1:c.1547G>A	NP_001375265.1:p.Arg516Lys
NM_001388337.1:c.1547G>A	NP_001375266.1:p.Arg516Lys
NM_001388338.1:c.1547G>A	NP_001375267.1:p.Arg516Lys
NM_001388339.1:c.1457G>A	NP_001375268.1:p.Arg486Lys
NM_001388340.1:c.1523G>A	NP_001375269.1:p.Arg508Lys
NM_001388341.1:c.1523G>A	NP_001375270.1:p.Arg508Lys
NM_001388342.1:c.1481G>A	NP_001375271.1:p.Arg494Lys
NM_001388343.1:c.1457G>A	NP_001375272.1:p.Arg486Lys
NM_001388344.1:c.1394G>A	NP_001375273.1:p.Arg465Lys
NM_001388345.1:c.1241G>A	NP_001375274.1:p.Arg414Lys
NM_001388346.1:c.1241G>A	NP_001375275.1:p.Arg414Lys
NM_001388347.1:c.1175G>A	NP_001375276.1:p.Arg392Lys
NM_001388348.1:c.1130G>A	NP_001375277.1:p.Arg377Lys
NM_001388349.1:c.1130G>A	NP_001375278.1:p.Arg377Lys
NM_001388350.1:c.1019G>A	NP_001375279.1:p.Arg340Lys
NM_001388351.1:c.1019G>A	NP_001375280.1:p.Arg340Lys
NM_001388352.1:c.884G>A	NP_001375281.1:p.Arg295Lys
NM_001388353.1:c.943-340G>A	NP_001375282.1:n.943-340G>A
NM_003980.4:c.1568G>A	NP_003971.1:p.Arg523Lys
ENST00000354570.7:c.1568G>A	ENSP00000346581.2:p.Arg523Lys
ENST00000432797.6:c.1130G>A	ENSP00000414879.2:p.Arg377Lys
ENST00000438100.6:c.1523G>A	ENSP00000400790.2:p.Arg508Lys
ENST00000454590.5:c.1634G>A	ENSP00000414712.1:p.Arg545Lys
ENST00000544465.5:c.1523G>A	ENSP00000445737.1:p.Arg508Lys
ENST00000611373.1:c.1130G>A	ENSP00000482998.1:p.Arg377Lys
ENST00000616617.4:c.1286G>A	ENSP00000483511.1:p.Arg429Lys
ENST00000617204.4:c.1658G>A	ENSP00000482335.1:p.Arg553Lys
ENST00000618822.4:c.1457G>A	ENSP00000482356.1:p.Arg486Lys
XM_006715598.1:c.1658G>A	XP_006715661.1:p.Arg553Lys
XM_006715598.3:c.1658G>A	XP_006715661.1:p.Arg553Lys
XM_006715599.1:c.1658G>A	XP_006715662.1:p.Arg553Lys
XM_006715599.3:c.1658G>A	XP_006715662.1:p.Arg553Lys
XM_006715600.1:c.1634G>A	XP_006715663.1:p.Arg545Lys
XM_006715600.3:c.1634G>A	XP_006715663.1:p.Arg545Lys
XM_006715601.2:c.1592G>A	XP_006715664.1:p.Arg531Lys
XM_006715601.4:c.1592G>A	XP_006715664.1:p.Arg531Lys
XM_011536243.1:c.1547G>A	XP_011534545.1:p.Arg516Lys
XM_011536243.2:c.1547G>A	XP_011534545.1:p.Arg516Lys
XM_011536244.1:c.1547G>A	XP_011534546.1:p.Arg516Lys
XM_011536244.3:c.1547G>A	XP_011534546.1:p.Arg516Lys
XM_011536245.1:c.1481G>A	XP_011534547.1:p.Arg494Lys
XM_011536245.2:c.1481G>A	XP_011534547.1:p.Arg494Lys
XM_011536246.1:c.1436G>A	XP_011534548.1:p.Arg479Lys
XM_011536246.2:c.1436G>A	XP_011534548.1:p.Arg479Lys
XM_017011471.2:c.1523G>A	XP_016866960.1:p.Arg508Lys