Canonical Allele Identifier: CA383038903

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121475933A>T (hg19) ; chr11:g.121605224A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605224A>T , CM000673.2:g.121605224A>T	GRCh38
NC_000011.9:g.121475933A>T , CM000673.1:g.121475933A>T	GRCh37
NC_000011.8:g.120981143A>T	NCBI36
NG_023313.1:g.157973A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.4763A>T MANE Select	ENSP00000260197.6:p.Tyr1588Phe
ENST00000260197.11:c.4763A>T	ENSP00000260197.6:p.Tyr1588Phe
ENST00000525532.5:c.1595A>T	ENSP00000434634.1:p.Tyr532Phe
ENST00000527934.1:c.608A>T	ENSP00000435405.1:p.Tyr203Phe
ENST00000532694.5:c.1301A>T	ENSP00000432131.1:p.Tyr434Phe
ENST00000534286.5:c.1493A>T	ENSP00000436447.1:p.Tyr498Phe
NM_003105.5:c.4763A>T	NP_003096.1:p.Tyr1588Phe
XM_011542963.1:c.4649A>T	XP_011541265.1:p.Tyr1550Phe
XM_011542964.1:c.4763A>T	XP_011541266.1:p.Tyr1588Phe
XM_011542965.1:c.3224A>T	XP_011541267.1:p.Tyr1075Phe
XM_011542966.1:c.2123A>T	XP_011541268.1:p.Tyr708Phe
XM_011542967.1:c.1595A>T	XP_011541269.1:p.Tyr532Phe
XM_011542963.3:c.4649A>T	XP_011541265.1:p.Tyr1550Phe
XM_011542965.3:c.3224A>T	XP_011541267.1:p.Tyr1075Phe
XM_011542967.3:c.1595A>T	XP_011541269.1:p.Tyr532Phe
XM_017018169.2:c.4451A>T	XP_016873658.1:p.Tyr1484Phe
XM_017018170.2:c.4238A>T	XP_016873659.1:p.Tyr1413Phe
XM_017018171.1:c.4763A>T	XP_016873660.1:p.Tyr1588Phe
XM_017018172.2:c.2123A>T	XP_016873661.1:p.Tyr708Phe
NM_003105.6:c.4763A>T MANE Select	NP_003096.2:p.Tyr1588Phe