Canonical Allele Identifier: CA399983714

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44096027G>T (hg19) ; chr17:g.46018661G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46018661G>T , CM000679.2:g.46018661G>T	GRCh38
NC_000017.10:g.44096027G>T , CM000679.1:g.44096027G>T	GRCh37
NC_000017.9:g.41451874G>T	NCBI36
NG_007398.1:g.129251G>T
NG_007398.2:g.129199G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.954G>T	ENSP00000413056.2:p.Lys318Asn
ENST00000703922.1:c.954G>T	ENSP00000515557.1:p.Lys318Asn
ENST00000703923.1:c.867G>T	ENSP00000515558.1:p.Lys289Asn
ENST00000703924.1:c.954G>T	ENSP00000515559.1:p.Lys318Asn
ENST00000703978.1:c.1041G>T	ENSP00000515600.1:p.Lys347Asn
ENST00000703979.1:n.812G>T
ENST00000703980.1:n.267G>T
ENST00000703981.1:n.225G>T
ENST00000703982.1:n.459G>T
ENST00000262410.10:c.2217G>T MANE Select	ENSP00000262410.6:p.Lys739Asn
ENST00000344290.10:c.1926G>T	ENSP00000340820.6:p.Lys642Asn
ENST00000351559.10:c.1041G>T	ENSP00000303214.7:p.Lys347Asn
ENST00000535772.6:c.861G>T	ENSP00000443028.2:p.Lys287Asn
ENST00000680542.1:c.954G>T	ENSP00000505258.1:p.Lys318Asn
ENST00000680674.1:c.990G>T	ENSP00000505478.1:p.Lys330Asn
ENST00000262410.9:c.1992G>T	ENSP00000262410.5:p.Lys664Asn
ENST00000334239.12:c.774G>T	ENSP00000334886.8:p.Lys258Asn
ENST00000340799.9:c.954G>T	ENSP00000340438.5:p.Lys318Asn
ENST00000344290.9:c.2046G>T	ENSP00000340820.5:p.Lys682Asn
ENST00000351559.9:c.1041G>T	ENSP00000303214.7:p.Lys347Asn
ENST00000415613.6:c.2046G>T	ENSP00000410838.2:p.Lys682Asn
ENST00000420682.6:c.954G>T	ENSP00000413056.2:p.Lys318Asn
ENST00000431008.7:c.948G>T	ENSP00000389250.3:p.Lys316Asn
ENST00000446361.7:c.867G>T	ENSP00000408975.3:p.Lys289Asn
ENST00000535772.5:c.948G>T	ENSP00000443028.1:p.Lys316Asn
ENST00000570299.5:n.820G>T
ENST00000571987.5:c.1992G>T	ENSP00000458742.1:p.Lys664Asn
ENST00000574436.5:c.1041G>T	ENSP00000460965.1:p.Lys347Asn
ENST00000576518.1:n.6233G>T
NM_001123066.3:c.2046G>T	NP_001116538.2:p.Lys682Asn
NM_001123067.3:c.954G>T	NP_001116539.1:p.Lys318Asn
NM_001203251.1:c.861G>T	NP_001190180.1:p.Lys287Asn
NM_001203252.1:c.948G>T	NP_001190181.1:p.Lys316Asn
NM_005910.5:c.1041G>T	NP_005901.2:p.Lys347Asn
NM_016834.4:c.867G>T	NP_058518.1:p.Lys289Asn
NM_016835.4:c.1992G>T	NP_058519.3:p.Lys664Asn
NM_016841.4:c.774G>T	NP_058525.1:p.Lys258Asn
XM_005257362.3:c.2304G>T	XP_005257419.1:p.Lys768Asn
XM_005257364.3:c.2217G>T	XP_005257421.1:p.Lys739Asn
XM_005257365.3:c.2211G>T	XP_005257422.1:p.Lys737Asn
XM_005257366.2:c.2130G>T	XP_005257423.1:p.Lys710Asn
XM_005257367.3:c.2106G>T	XP_005257424.1:p.Lys702Asn
XM_005257368.3:c.2013G>T	XP_005257425.1:p.Lys671Asn
XM_005257369.3:c.1239G>T	XP_005257426.1:p.Lys413Asn
XM_005257370.3:c.1152G>T	XP_005257427.1:p.Lys384Asn
XM_005257371.3:c.1065G>T	XP_005257428.1:p.Lys355Asn
XM_005257362.4:c.2304G>T	XP_005257419.1:p.Lys768Asn
XM_005257364.4:c.2217G>T	XP_005257421.1:p.Lys739Asn
XM_005257365.4:c.2211G>T	XP_005257422.1:p.Lys737Asn
XM_005257366.3:c.2130G>T	XP_005257423.1:p.Lys710Asn
XM_005257367.4:c.2106G>T	XP_005257424.1:p.Lys702Asn
XM_005257368.4:c.2013G>T	XP_005257425.1:p.Lys671Asn
XM_005257369.4:c.1239G>T	XP_005257426.1:p.Lys413Asn
XM_005257370.4:c.1152G>T	XP_005257427.1:p.Lys384Asn
XM_005257371.4:c.1065G>T	XP_005257428.1:p.Lys355Asn
NM_001203251.2:c.861G>T	NP_001190180.1:p.Lys287Asn
NM_001377265.1:c.2217G>T MANE Select	NP_001364194.1:p.Lys739Asn
NM_001377266.1:c.1926G>T	NP_001364195.1:p.Lys642Asn
NM_001377267.1:c.771+4383G>T	NP_001364196.1:n.771+4383G>T
NM_001377268.1:c.774G>T	NP_001364197.1:p.Lys258Asn
NM_016834.5:c.867G>T	NP_058518.1:p.Lys289Asn
NM_016841.5:c.774G>T	NP_058525.1:p.Lys258Asn
NR_165166.1:n.872G>T
NM_001123066.4:c.2046G>T	NP_001116538.2:p.Lys682Asn
NM_001123067.4:c.954G>T	NP_001116539.1:p.Lys318Asn
NM_001203252.2:c.948G>T	NP_001190181.1:p.Lys316Asn
NM_005910.6:c.1041G>T	NP_005901.2:p.Lys347Asn
NM_016835.5:c.1992G>T	NP_058519.3:p.Lys664Asn