Canonical Allele Identifier: CA229873623

Gene: SORL1

Linked Data

• dbSNP Id: rs373796849
• MyVariant Identifiers: chr11:g.121475836T>C (hg19) ; chr11:g.121605127T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605127T>C , CM000673.2:g.121605127T>C	GRCh38
NC_000011.9:g.121475836T>C , CM000673.1:g.121475836T>C	GRCh37
NC_000011.8:g.120981046T>C	NCBI36
NG_023313.1:g.157876T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.4666T>C MANE Select	ENSP00000260197.6:p.Tyr1556His
ENST00000260197.11:c.4666T>C	ENSP00000260197.6:p.Tyr1556His
ENST00000525532.5:c.1498T>C	ENSP00000434634.1:p.Tyr500His
ENST00000527934.1:c.511T>C	ENSP00000435405.1:p.Tyr171His
ENST00000532694.5:c.1204T>C	ENSP00000432131.1:p.Tyr402His
ENST00000534286.5:c.1396T>C	ENSP00000436447.1:p.Tyr466His
NM_003105.5:c.4666T>C	NP_003096.1:p.Tyr1556His
XM_011542963.1:c.4552T>C	XP_011541265.1:p.Tyr1518His
XM_011542964.1:c.4666T>C	XP_011541266.1:p.Tyr1556His
XM_011542965.1:c.3127T>C	XP_011541267.1:p.Tyr1043His
XM_011542966.1:c.2026T>C	XP_011541268.1:p.Tyr676His
XM_011542967.1:c.1498T>C	XP_011541269.1:p.Tyr500His
XM_011542963.3:c.4552T>C	XP_011541265.1:p.Tyr1518His
XM_011542965.3:c.3127T>C	XP_011541267.1:p.Tyr1043His
XM_011542967.3:c.1498T>C	XP_011541269.1:p.Tyr500His
XM_017018169.2:c.4354T>C	XP_016873658.1:p.Tyr1452His
XM_017018170.2:c.4141T>C	XP_016873659.1:p.Tyr1381His
XM_017018171.1:c.4666T>C	XP_016873660.1:p.Tyr1556His
XM_017018172.2:c.2026T>C	XP_016873661.1:p.Tyr676His
NM_003105.6:c.4666T>C MANE Select	NP_003096.2:p.Tyr1556His