Canonical Allele Identifier: CA383038410

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121475839A>T (hg19) ; chr11:g.121605130A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605130A>T , CM000673.2:g.121605130A>T	GRCh38
NC_000011.9:g.121475839A>T , CM000673.1:g.121475839A>T	GRCh37
NC_000011.8:g.120981049A>T	NCBI36
NG_023313.1:g.157879A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.4669A>T MANE Select	ENSP00000260197.6:p.Lys1557Ter
ENST00000260197.11:c.4669A>T	ENSP00000260197.6:p.Lys1557Ter
ENST00000525532.5:c.1501A>T	ENSP00000434634.1:p.Lys501Ter
ENST00000527934.1:c.514A>T	ENSP00000435405.1:p.Lys172Ter
ENST00000532694.5:c.1207A>T	ENSP00000432131.1:p.Lys403Ter
ENST00000534286.5:c.1399A>T	ENSP00000436447.1:p.Lys467Ter
NM_003105.5:c.4669A>T	NP_003096.1:p.Lys1557Ter
XM_011542963.1:c.4555A>T	XP_011541265.1:p.Lys1519Ter
XM_011542964.1:c.4669A>T	XP_011541266.1:p.Lys1557Ter
XM_011542965.1:c.3130A>T	XP_011541267.1:p.Lys1044Ter
XM_011542966.1:c.2029A>T	XP_011541268.1:p.Lys677Ter
XM_011542967.1:c.1501A>T	XP_011541269.1:p.Lys501Ter
XM_011542963.3:c.4555A>T	XP_011541265.1:p.Lys1519Ter
XM_011542965.3:c.3130A>T	XP_011541267.1:p.Lys1044Ter
XM_011542967.3:c.1501A>T	XP_011541269.1:p.Lys501Ter
XM_017018169.2:c.4357A>T	XP_016873658.1:p.Lys1453Ter
XM_017018170.2:c.4144A>T	XP_016873659.1:p.Lys1382Ter
XM_017018171.1:c.4669A>T	XP_016873660.1:p.Lys1557Ter
XM_017018172.2:c.2029A>T	XP_016873661.1:p.Lys677Ter
NM_003105.6:c.4669A>T MANE Select	NP_003096.2:p.Lys1557Ter