Canonical Allele Identifier: CA383038930

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121475945A>C (hg19) ; chr11:g.121605236A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605236A>C , CM000673.2:g.121605236A>C	GRCh38
NC_000011.9:g.121475945A>C , CM000673.1:g.121475945A>C	GRCh37
NC_000011.8:g.120981155A>C	NCBI36
NG_023313.1:g.157985A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.4775A>C MANE Select	ENSP00000260197.6:p.Tyr1592Ser
ENST00000260197.11:c.4775A>C	ENSP00000260197.6:p.Tyr1592Ser
ENST00000525532.5:c.1607A>C	ENSP00000434634.1:p.Tyr536Ser
ENST00000527934.1:c.620A>C	ENSP00000435405.1:p.Tyr207Ser
ENST00000532694.5:c.1313A>C	ENSP00000432131.1:p.Tyr438Ser
ENST00000534286.5:c.1505A>C	ENSP00000436447.1:p.Tyr502Ser
NM_003105.5:c.4775A>C	NP_003096.1:p.Tyr1592Ser
XM_011542963.1:c.4661A>C	XP_011541265.1:p.Tyr1554Ser
XM_011542964.1:c.4775A>C	XP_011541266.1:p.Tyr1592Ser
XM_011542965.1:c.3236A>C	XP_011541267.1:p.Tyr1079Ser
XM_011542966.1:c.2135A>C	XP_011541268.1:p.Tyr712Ser
XM_011542967.1:c.1607A>C	XP_011541269.1:p.Tyr536Ser
XM_011542963.3:c.4661A>C	XP_011541265.1:p.Tyr1554Ser
XM_011542965.3:c.3236A>C	XP_011541267.1:p.Tyr1079Ser
XM_011542967.3:c.1607A>C	XP_011541269.1:p.Tyr536Ser
XM_017018169.2:c.4463A>C	XP_016873658.1:p.Tyr1488Ser
XM_017018170.2:c.4250A>C	XP_016873659.1:p.Tyr1417Ser
XM_017018171.1:c.4775A>C	XP_016873660.1:p.Tyr1592Ser
XM_017018172.2:c.2135A>C	XP_016873661.1:p.Tyr712Ser
NM_003105.6:c.4775A>C MANE Select	NP_003096.2:p.Tyr1592Ser