Canonical Allele Identifier: CA391933641

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38351293-A-G
• MyVariant Identifiers: chr15:g.38643494A>G (hg19) ; chr15:g.38351293A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351293A>G , CM000677.2:g.38351293A>G	GRCh38
NC_000015.9:g.38643494A>G , CM000677.1:g.38643494A>G	GRCh37
NC_000015.8:g.36430786A>G	NCBI36
NG_008980.1:g.103443A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.964A>G MANE Select	ENSP00000299084.4:p.Lys322Glu
ENST00000299084.8:c.964A>G	ENSP00000299084.4:p.Lys322Glu
NM_152594.2:c.964A>G	NP_689807.1:p.Lys322Glu
XM_005254202.2:c.1000A>G	XP_005254259.1:p.Lys334Glu
XM_005254203.3:c.742A>G	XP_005254260.1:p.Lys248Glu
XM_011521288.1:c.901A>G	XP_011519590.1:p.Lys301Glu
XM_011521289.1:c.901A>G	XP_011519591.1:p.Lys301Glu
XM_011521290.1:c.901A>G	XP_011519592.1:p.Lys301Glu
XM_005254202.3:c.1000A>G	XP_005254259.1:p.Lys334Glu
XM_011521289.3:c.901A>G	XP_011519591.1:p.Lys301Glu
NM_152594.3:c.964A>G MANE Select	NP_689807.1:p.Lys322Glu