Canonical Allele Identifier: CA383038403

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121475837A>C (hg19) ; chr11:g.121605128A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605128A>C , CM000673.2:g.121605128A>C	GRCh38
NC_000011.9:g.121475837A>C , CM000673.1:g.121475837A>C	GRCh37
NC_000011.8:g.120981047A>C	NCBI36
NG_023313.1:g.157877A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.4667A>C MANE Select	ENSP00000260197.6:p.Tyr1556Ser
ENST00000260197.11:c.4667A>C	ENSP00000260197.6:p.Tyr1556Ser
ENST00000525532.5:c.1499A>C	ENSP00000434634.1:p.Tyr500Ser
ENST00000527934.1:c.512A>C	ENSP00000435405.1:p.Tyr171Ser
ENST00000532694.5:c.1205A>C	ENSP00000432131.1:p.Tyr402Ser
ENST00000534286.5:c.1397A>C	ENSP00000436447.1:p.Tyr466Ser
NM_003105.5:c.4667A>C	NP_003096.1:p.Tyr1556Ser
XM_011542963.1:c.4553A>C	XP_011541265.1:p.Tyr1518Ser
XM_011542964.1:c.4667A>C	XP_011541266.1:p.Tyr1556Ser
XM_011542965.1:c.3128A>C	XP_011541267.1:p.Tyr1043Ser
XM_011542966.1:c.2027A>C	XP_011541268.1:p.Tyr676Ser
XM_011542967.1:c.1499A>C	XP_011541269.1:p.Tyr500Ser
XM_011542963.3:c.4553A>C	XP_011541265.1:p.Tyr1518Ser
XM_011542965.3:c.3128A>C	XP_011541267.1:p.Tyr1043Ser
XM_011542967.3:c.1499A>C	XP_011541269.1:p.Tyr500Ser
XM_017018169.2:c.4355A>C	XP_016873658.1:p.Tyr1452Ser
XM_017018170.2:c.4142A>C	XP_016873659.1:p.Tyr1381Ser
XM_017018171.1:c.4667A>C	XP_016873660.1:p.Tyr1556Ser
XM_017018172.2:c.2027A>C	XP_016873661.1:p.Tyr676Ser
NM_003105.6:c.4667A>C MANE Select	NP_003096.2:p.Tyr1556Ser