Canonical Allele Identifier: CA391933169

Gene: SPRED1

Linked Data

• dbSNP Id: rs1261287171
• gnomAD v4: 15-38351084-A-T
• MyVariant Identifiers: chr15:g.38643285A>T (hg19) ; chr15:g.38351084A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351084A>T , CM000677.2:g.38351084A>T	GRCh38
NC_000015.9:g.38643285A>T , CM000677.1:g.38643285A>T	GRCh37
NC_000015.8:g.36430577A>T	NCBI36
NG_008980.1:g.103234A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.755A>T MANE Select	ENSP00000299084.4:p.Asp252Val
ENST00000299084.8:c.755A>T	ENSP00000299084.4:p.Asp252Val
NM_152594.2:c.755A>T	NP_689807.1:p.Asp252Val
XM_005254202.2:c.791A>T	XP_005254259.1:p.Asp264Val
XM_005254203.3:c.533A>T	XP_005254260.1:p.Asp178Val
XM_011521288.1:c.692A>T	XP_011519590.1:p.Asp231Val
XM_011521289.1:c.692A>T	XP_011519591.1:p.Asp231Val
XM_011521290.1:c.692A>T	XP_011519592.1:p.Asp231Val
XM_005254202.3:c.791A>T	XP_005254259.1:p.Asp264Val
XM_011521289.3:c.692A>T	XP_011519591.1:p.Asp231Val
NM_152594.3:c.755A>T MANE Select	NP_689807.1:p.Asp252Val