Canonical Allele Identifier: CA383038928

Gene: SORL1

Linked Data

• dbSNP Id: rs1863451460
• gnomAD v4: 11-121605235-T-C
• MyVariant Identifiers: chr11:g.121475944T>C (hg19) ; chr11:g.121605235T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605235T>C , CM000673.2:g.121605235T>C	GRCh38
NC_000011.9:g.121475944T>C , CM000673.1:g.121475944T>C	GRCh37
NC_000011.8:g.120981154T>C	NCBI36
NG_023313.1:g.157984T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.4774T>C MANE Select	ENSP00000260197.6:p.Tyr1592His
ENST00000260197.11:c.4774T>C	ENSP00000260197.6:p.Tyr1592His
ENST00000525532.5:c.1606T>C	ENSP00000434634.1:p.Tyr536His
ENST00000527934.1:c.619T>C	ENSP00000435405.1:p.Tyr207His
ENST00000532694.5:c.1312T>C	ENSP00000432131.1:p.Tyr438His
ENST00000534286.5:c.1504T>C	ENSP00000436447.1:p.Tyr502His
NM_003105.5:c.4774T>C	NP_003096.1:p.Tyr1592His
XM_011542963.1:c.4660T>C	XP_011541265.1:p.Tyr1554His
XM_011542964.1:c.4774T>C	XP_011541266.1:p.Tyr1592His
XM_011542965.1:c.3235T>C	XP_011541267.1:p.Tyr1079His
XM_011542966.1:c.2134T>C	XP_011541268.1:p.Tyr712His
XM_011542967.1:c.1606T>C	XP_011541269.1:p.Tyr536His
XM_011542963.3:c.4660T>C	XP_011541265.1:p.Tyr1554His
XM_011542965.3:c.3235T>C	XP_011541267.1:p.Tyr1079His
XM_011542967.3:c.1606T>C	XP_011541269.1:p.Tyr536His
XM_017018169.2:c.4462T>C	XP_016873658.1:p.Tyr1488His
XM_017018170.2:c.4249T>C	XP_016873659.1:p.Tyr1417His
XM_017018171.1:c.4774T>C	XP_016873660.1:p.Tyr1592His
XM_017018172.2:c.2134T>C	XP_016873661.1:p.Tyr712His
NM_003105.6:c.4774T>C MANE Select	NP_003096.2:p.Tyr1592His