Canonical Allele Identifier: CA477221766

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121475928T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605219T>C , CM000673.2:g.121605219T>C	GRCh38
NC_000011.9:g.121475928T>C , CM000673.1:g.121475928T>C	GRCh37
NC_000011.8:g.120981138T>C	NCBI36
NG_023313.1:g.157968T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.4758T>C MANE Select	ENSP00000260197.6:p.Cys1586=
ENST00000260197.11:c.4758T>C	ENSP00000260197.6:p.Cys1586=
ENST00000525532.5:c.1590T>C	ENSP00000434634.1:p.Cys530=
ENST00000527934.1:c.603T>C	ENSP00000435405.1:p.Cys201=
ENST00000532694.5:c.1296T>C	ENSP00000432131.1:p.Cys432=
ENST00000534286.5:c.1488T>C	ENSP00000436447.1:p.Cys496=
NM_003105.5:c.4758T>C	NP_003096.1:p.Cys1586=
XM_011542963.1:c.4644T>C	XP_011541265.1:p.Cys1548=
XM_011542964.1:c.4758T>C	XP_011541266.1:p.Cys1586=
XM_011542965.1:c.3219T>C	XP_011541267.1:p.Cys1073=
XM_011542966.1:c.2118T>C	XP_011541268.1:p.Cys706=
XM_011542967.1:c.1590T>C	XP_011541269.1:p.Cys530=
XM_011542963.3:c.4644T>C	XP_011541265.1:p.Cys1548=
XM_011542965.3:c.3219T>C	XP_011541267.1:p.Cys1073=
XM_011542967.3:c.1590T>C	XP_011541269.1:p.Cys530=
XM_017018169.2:c.4446T>C	XP_016873658.1:p.Cys1482=
XM_017018170.2:c.4233T>C	XP_016873659.1:p.Cys1411=
XM_017018171.1:c.4758T>C	XP_016873660.1:p.Cys1586=
XM_017018172.2:c.2118T>C	XP_016873661.1:p.Cys706=
NM_003105.6:c.4758T>C MANE Select	NP_003096.2:p.Cys1586=