LDH info

Canonical Allele Identifier: CA225397
Gene: MAPT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 98202
dbSNP Id: rs2258689

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.45990016T>C , CM000679.2:g.45990016T>C GRCh38
NC_000017.10:g.44067382T>C , CM000679.1:g.44067382T>C GRCh37
NG_007398.2:g.100554T>C

Transcript Alleles

HGVS Amino-acid change
NM_001123066.3:c.1321T>C VV NP_001116538.2:p.Tyr441His
NM_001123067.3:c.343-1444T>C VV NP_001116539.1:p.=
NM_001203251.1:c.343-1444T>C VV NP_001190180.1:p.=
NM_001203252.1:c.430-1444T>C VV NP_001190181.1:p.=
NM_005910.5:c.430-1444T>C VV NP_005901.2:p.=
NM_016834.4:c.256-1444T>C VV NP_058518.1:p.=
NM_016835.4:c.1321T>C VV NP_058519.3:p.Tyr441His
NM_016841.4:c.256-1444T>C VV NP_058525.1:p.=
XM_005257362.3:c.1633T>C XP_005257419.1:p.Tyr545His
XM_005257364.3:c.1546T>C XP_005257421.1:p.Tyr516His
XM_005257365.3:c.1633T>C XP_005257422.1:p.Tyr545His
XM_005257366.2:c.1459T>C XP_005257423.1:p.Tyr487His
XM_005257367.3:c.1495-1444T>C XP_005257424.1:p.=
XM_005257368.3:c.1495-1444T>C XP_005257425.1:p.=
XM_005257369.3:c.568T>C XP_005257426.1:p.Tyr190His
XM_005257370.3:c.481T>C XP_005257427.1:p.Tyr161His
XM_005257371.3:c.394T>C XP_005257428.1:p.Tyr132His
XM_005257362.4:c.1633T>C XP_005257419.1:p.Tyr545His
XM_005257364.4:c.1546T>C XP_005257421.1:p.Tyr516His
XM_005257365.4:c.1633T>C XP_005257422.1:p.Tyr545His
XM_005257366.3:c.1459T>C XP_005257423.1:p.Tyr487His
XM_005257367.4:c.1495-1444T>C XP_005257424.1:p.=
XM_005257368.4:c.1495-1444T>C XP_005257425.1:p.=
XM_005257369.4:c.568T>C XP_005257426.1:p.Tyr190His
XM_005257370.4:c.481T>C XP_005257427.1:p.Tyr161His
XM_005257371.4:c.394T>C XP_005257428.1:p.Tyr132His
NM_001203251.2:c.343-1444T>C VV NP_001190180.1:p.=
NM_001377265.1:c.1546T>C VV NP_001364194.1:p.Tyr516His
NM_001377266.1:c.1408-1444T>C VV NP_001364195.1:p.=
NM_001377267.1:c.343-1444T>C VV NP_001364196.1:p.=
NM_001377268.1:c.256-1444T>C VV NP_001364197.1:p.=
NM_016834.5:c.256-1444T>C VV NP_058518.1:p.=
NM_016841.5:c.256-1444T>C VV NP_058525.1:p.=
NR_165166.1:n.493-1444T>C
ENST00000262410.9:c.1321T>C ENSP00000262410.5:p.Tyr441His
ENST00000334239.12:c.256-1444T>C ENSP00000334886.8:p.=
ENST00000340799.9:c.343-1444T>C ENSP00000340438.5:p.=
ENST00000344290.9:c.1321T>C ENSP00000340820.5:p.Tyr441His
ENST00000351559.9:c.430-1444T>C ENSP00000303214.7:p.=
ENST00000415613.6:n.1321T>C ENSP00000410838.2:p.Tyr441His
ENST00000420682.6:n.343-1444T>C ENSP00000413056.2:p.=
ENST00000431008.7:n.430-1444T>C ENSP00000389250.3:p.=
ENST00000446361.7:c.256-1444T>C ENSP00000408975.3:p.=
ENST00000535772.5:c.430-1444T>C ENSP00000443028.1:p.=
ENST00000570299.5:n.384-1444T>C
ENST00000571987.5:n.1321T>C ENSP00000458742.1:p.Tyr441His
ENST00000574436.5:n.430-1444T>C ENSP00000460965.1:p.=
ENST00000576518.1:n.5715-1444T>C