Canonical Allele Identifier: CA672592181

Gene: SORL1

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121570811A>T , CM000673.2:g.121570811A>T	GRCh38
NC_000011.9:g.121441520A>T , CM000673.1:g.121441520A>T	GRCh37
NC_000011.8:g.120946730A>T	NCBI36
NG_023313.1:g.123560A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.3337+541A>T MANE Select	ENSP00000260197.6:n.3337+541A>T
ENST00000260197.11:c.3337+541A>T	ENSP00000260197.6:n.3337+541A>T
ENST00000525532.5:c.169+541A>T	ENSP00000434634.1:n.169+541A>T
NM_003105.5:c.3337+541A>T	NP_003096.1:n.3337+541A>T
XM_011542963.1:c.3224-3430A>T	XP_011541265.1:n.3224-3430A>T
XM_011542964.1:c.3337+541A>T	XP_011541266.1:n.3337+541A>T
XM_011542965.1:c.1798+541A>T	XP_011541267.1:n.1798+541A>T
XM_011542966.1:c.697+541A>T	XP_011541268.1:n.697+541A>T
XM_011542967.1:c.169+541A>T	XP_011541269.1:n.169+541A>T
XM_011542963.3:c.3224-3430A>T	XP_011541265.1:n.3224-3430A>T
XM_011542965.3:c.1798+541A>T	XP_011541267.1:n.1798+541A>T
XM_011542967.3:c.169+541A>T	XP_011541269.1:n.169+541A>T
XM_017018169.2:c.3025+541A>T	XP_016873658.1:n.3025+541A>T
XM_017018170.2:c.2812+541A>T	XP_016873659.1:n.2812+541A>T
XM_017018171.1:c.3337+541A>T	XP_016873660.1:n.3337+541A>T
XM_017018172.2:c.697+541A>T	XP_016873661.1:n.697+541A>T
NM_003105.6:c.3337+541A>T MANE Select	NP_003096.2:n.3337+541A>T