Canonical Allele Identifier: CA399983684

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44096015G>T (hg19) ; chr17:g.46018649G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46018649G>T , CM000679.2:g.46018649G>T	GRCh38
NC_000017.10:g.44096015G>T , CM000679.1:g.44096015G>T	GRCh37
NC_000017.9:g.41451862G>T	NCBI36
NG_007398.1:g.129239G>T
NG_007398.2:g.129187G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.942G>T	ENSP00000413056.2:p.Lys314Asn
ENST00000703922.1:c.942G>T	ENSP00000515557.1:p.Lys314Asn
ENST00000703923.1:c.855G>T	ENSP00000515558.1:p.Lys285Asn
ENST00000703924.1:c.942G>T	ENSP00000515559.1:p.Lys314Asn
ENST00000703978.1:c.1029G>T	ENSP00000515600.1:p.Lys343Asn
ENST00000703979.1:n.800G>T
ENST00000703980.1:n.255G>T
ENST00000703981.1:n.213G>T
ENST00000703982.1:n.447G>T
ENST00000262410.10:c.2205G>T MANE Select	ENSP00000262410.6:p.Lys735Asn
ENST00000344290.10:c.1914G>T	ENSP00000340820.6:p.Lys638Asn
ENST00000351559.10:c.1029G>T	ENSP00000303214.7:p.Lys343Asn
ENST00000535772.6:c.849G>T	ENSP00000443028.2:p.Lys283Asn
ENST00000680542.1:c.942G>T	ENSP00000505258.1:p.Lys314Asn
ENST00000680674.1:c.978G>T	ENSP00000505478.1:p.Lys326Asn
ENST00000262410.9:c.1980G>T	ENSP00000262410.5:p.Lys660Asn
ENST00000334239.12:c.762G>T	ENSP00000334886.8:p.Lys254Asn
ENST00000340799.9:c.942G>T	ENSP00000340438.5:p.Lys314Asn
ENST00000344290.9:c.2034G>T	ENSP00000340820.5:p.Lys678Asn
ENST00000351559.9:c.1029G>T	ENSP00000303214.7:p.Lys343Asn
ENST00000415613.6:c.2034G>T	ENSP00000410838.2:p.Lys678Asn
ENST00000420682.6:c.942G>T	ENSP00000413056.2:p.Lys314Asn
ENST00000431008.7:c.936G>T	ENSP00000389250.3:p.Lys312Asn
ENST00000446361.7:c.855G>T	ENSP00000408975.3:p.Lys285Asn
ENST00000535772.5:c.936G>T	ENSP00000443028.1:p.Lys312Asn
ENST00000570299.5:n.808G>T
ENST00000571987.5:c.1980G>T	ENSP00000458742.1:p.Lys660Asn
ENST00000574436.5:c.1029G>T	ENSP00000460965.1:p.Lys343Asn
ENST00000576518.1:n.6221G>T
NM_001123066.3:c.2034G>T	NP_001116538.2:p.Lys678Asn
NM_001123067.3:c.942G>T	NP_001116539.1:p.Lys314Asn
NM_001203251.1:c.849G>T	NP_001190180.1:p.Lys283Asn
NM_001203252.1:c.936G>T	NP_001190181.1:p.Lys312Asn
NM_005910.5:c.1029G>T	NP_005901.2:p.Lys343Asn
NM_016834.4:c.855G>T	NP_058518.1:p.Lys285Asn
NM_016835.4:c.1980G>T	NP_058519.3:p.Lys660Asn
NM_016841.4:c.762G>T	NP_058525.1:p.Lys254Asn
XM_005257362.3:c.2292G>T	XP_005257419.1:p.Lys764Asn
XM_005257364.3:c.2205G>T	XP_005257421.1:p.Lys735Asn
XM_005257365.3:c.2199G>T	XP_005257422.1:p.Lys733Asn
XM_005257366.2:c.2118G>T	XP_005257423.1:p.Lys706Asn
XM_005257367.3:c.2094G>T	XP_005257424.1:p.Lys698Asn
XM_005257368.3:c.2001G>T	XP_005257425.1:p.Lys667Asn
XM_005257369.3:c.1227G>T	XP_005257426.1:p.Lys409Asn
XM_005257370.3:c.1140G>T	XP_005257427.1:p.Lys380Asn
XM_005257371.3:c.1053G>T	XP_005257428.1:p.Lys351Asn
XM_005257362.4:c.2292G>T	XP_005257419.1:p.Lys764Asn
XM_005257364.4:c.2205G>T	XP_005257421.1:p.Lys735Asn
XM_005257365.4:c.2199G>T	XP_005257422.1:p.Lys733Asn
XM_005257366.3:c.2118G>T	XP_005257423.1:p.Lys706Asn
XM_005257367.4:c.2094G>T	XP_005257424.1:p.Lys698Asn
XM_005257368.4:c.2001G>T	XP_005257425.1:p.Lys667Asn
XM_005257369.4:c.1227G>T	XP_005257426.1:p.Lys409Asn
XM_005257370.4:c.1140G>T	XP_005257427.1:p.Lys380Asn
XM_005257371.4:c.1053G>T	XP_005257428.1:p.Lys351Asn
NM_001203251.2:c.849G>T	NP_001190180.1:p.Lys283Asn
NM_001377265.1:c.2205G>T MANE Select	NP_001364194.1:p.Lys735Asn
NM_001377266.1:c.1914G>T	NP_001364195.1:p.Lys638Asn
NM_001377267.1:c.771+4371G>T	NP_001364196.1:n.771+4371G>T
NM_001377268.1:c.762G>T	NP_001364197.1:p.Lys254Asn
NM_016834.5:c.855G>T	NP_058518.1:p.Lys285Asn
NM_016841.5:c.762G>T	NP_058525.1:p.Lys254Asn
NR_165166.1:n.860G>T
NM_001123066.4:c.2034G>T	NP_001116538.2:p.Lys678Asn
NM_001123067.4:c.942G>T	NP_001116539.1:p.Lys314Asn
NM_001203252.2:c.936G>T	NP_001190181.1:p.Lys312Asn
NM_005910.6:c.1029G>T	NP_005901.2:p.Lys343Asn
NM_016835.5:c.1980G>T	NP_058519.3:p.Lys660Asn