Canonical Allele Identifier: CA391933499

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1326433
• ClinVar RCV Id: RCV001786613 ; RCV002541246
• dbSNP Id: rs1888477050
• MyVariant Identifiers: chr15:g.38643428A>G (hg19) ; chr15:g.38351227A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351227A>G , CM000677.2:g.38351227A>G	GRCh38
NC_000015.9:g.38643428A>G , CM000677.1:g.38643428A>G	GRCh37
NC_000015.8:g.36430720A>G	NCBI36
NG_008980.1:g.103377A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.898A>G MANE Select	ENSP00000299084.4:p.Thr300Ala
ENST00000299084.8:c.898A>G	ENSP00000299084.4:p.Thr300Ala
NM_152594.2:c.898A>G	NP_689807.1:p.Thr300Ala
XM_005254202.2:c.934A>G	XP_005254259.1:p.Thr312Ala
XM_005254203.3:c.676A>G	XP_005254260.1:p.Thr226Ala
XM_011521288.1:c.835A>G	XP_011519590.1:p.Thr279Ala
XM_011521289.1:c.835A>G	XP_011519591.1:p.Thr279Ala
XM_011521290.1:c.835A>G	XP_011519592.1:p.Thr279Ala
XM_005254202.3:c.934A>G	XP_005254259.1:p.Thr312Ala
XM_011521289.3:c.835A>G	XP_011519591.1:p.Thr279Ala
NM_152594.3:c.898A>G MANE Select	NP_689807.1:p.Thr300Ala