Canonical Allele Identifier: CA391934318

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2662977
• ClinVar RCV Id: RCV003441642
• MyVariant Identifiers: chr15:g.38643675A>T (hg19) ; chr15:g.38351474A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351474A>T , CM000677.2:g.38351474A>T	GRCh38
NC_000015.9:g.38643675A>T , CM000677.1:g.38643675A>T	GRCh37
NC_000015.8:g.36430967A>T	NCBI36
NG_008980.1:g.103624A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1145A>T MANE Select	ENSP00000299084.4:p.Asp382Val
ENST00000299084.8:c.1145A>T	ENSP00000299084.4:p.Asp382Val
NM_152594.2:c.1145A>T	NP_689807.1:p.Asp382Val
XM_005254202.2:c.1181A>T	XP_005254259.1:p.Asp394Val
XM_005254203.3:c.923A>T	XP_005254260.1:p.Asp308Val
XM_011521288.1:c.1082A>T	XP_011519590.1:p.Asp361Val
XM_011521289.1:c.1082A>T	XP_011519591.1:p.Asp361Val
XM_011521290.1:c.1082A>T	XP_011519592.1:p.Asp361Val
XM_005254202.3:c.1181A>T	XP_005254259.1:p.Asp394Val
XM_011521289.3:c.1082A>T	XP_011519591.1:p.Asp361Val
NM_152594.3:c.1145A>T MANE Select	NP_689807.1:p.Asp382Val