Canonical Allele Identifier: CA383038902

Gene: SORL1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.4763A>C MANE Select	ENSP00000260197.6:p.Tyr1588Ser
ENST00000260197.11:c.4763A>C	ENSP00000260197.6:p.Tyr1588Ser
ENST00000525532.5:c.1595A>C	ENSP00000434634.1:p.Tyr532Ser
ENST00000527934.1:c.608A>C	ENSP00000435405.1:p.Tyr203Ser
ENST00000532694.5:c.1301A>C	ENSP00000432131.1:p.Tyr434Ser
ENST00000534286.5:c.1493A>C	ENSP00000436447.1:p.Tyr498Ser
NM_003105.5:c.4763A>C	NP_003096.1:p.Tyr1588Ser
XM_011542963.1:c.4649A>C	XP_011541265.1:p.Tyr1550Ser
XM_011542964.1:c.4763A>C	XP_011541266.1:p.Tyr1588Ser
XM_011542965.1:c.3224A>C	XP_011541267.1:p.Tyr1075Ser
XM_011542966.1:c.2123A>C	XP_011541268.1:p.Tyr708Ser
XM_011542967.1:c.1595A>C	XP_011541269.1:p.Tyr532Ser
XM_011542963.3:c.4649A>C	XP_011541265.1:p.Tyr1550Ser
XM_011542965.3:c.3224A>C	XP_011541267.1:p.Tyr1075Ser
XM_011542967.3:c.1595A>C	XP_011541269.1:p.Tyr532Ser
XM_017018169.2:c.4451A>C	XP_016873658.1:p.Tyr1484Ser
XM_017018170.2:c.4238A>C	XP_016873659.1:p.Tyr1413Ser
XM_017018171.1:c.4763A>C	XP_016873660.1:p.Tyr1588Ser
XM_017018172.2:c.2123A>C	XP_016873661.1:p.Tyr708Ser
NM_003105.6:c.4763A>C MANE Select	NP_003096.2:p.Tyr1588Ser