Canonical Allele Identifier: CA391934757

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 970735
• ClinVar RCV Id: RCV001246364
• dbSNP Id: rs1888490898
• MyVariant Identifiers: chr15:g.38643810A>G (hg19) ; chr15:g.38351609A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351609A>G , CM000677.2:g.38351609A>G	GRCh38
NC_000015.9:g.38643810A>G , CM000677.1:g.38643810A>G	GRCh37
NC_000015.8:g.36431102A>G	NCBI36
NG_008980.1:g.103759A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1280A>G MANE Select	ENSP00000299084.4:p.His427Arg
ENST00000299084.8:c.1280A>G	ENSP00000299084.4:p.His427Arg
NM_152594.2:c.1280A>G	NP_689807.1:p.His427Arg
XM_005254202.2:c.1316A>G	XP_005254259.1:p.His439Arg
XM_005254203.3:c.1058A>G	XP_005254260.1:p.His353Arg
XM_011521288.1:c.1217A>G	XP_011519590.1:p.His406Arg
XM_011521289.1:c.1217A>G	XP_011519591.1:p.His406Arg
XM_011521290.1:c.1217A>G	XP_011519592.1:p.His406Arg
XM_005254202.3:c.1316A>G	XP_005254259.1:p.His439Arg
XM_011521289.3:c.1217A>G	XP_011519591.1:p.His406Arg
NM_152594.3:c.1280A>G MANE Select	NP_689807.1:p.His427Arg