Canonical Allele Identifier: CA391934489

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2759487
• ClinVar RCV Id: RCV003498572
• MyVariant Identifiers: chr15:g.38643720A>G (hg19) ; chr15:g.38351519A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351519A>G , CM000677.2:g.38351519A>G	GRCh38
NC_000015.9:g.38643720A>G , CM000677.1:g.38643720A>G	GRCh37
NC_000015.8:g.36431012A>G	NCBI36
NG_008980.1:g.103669A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1190A>G MANE Select	ENSP00000299084.4:p.Asp397Gly
ENST00000299084.8:c.1190A>G	ENSP00000299084.4:p.Asp397Gly
NM_152594.2:c.1190A>G	NP_689807.1:p.Asp397Gly
XM_005254202.2:c.1226A>G	XP_005254259.1:p.Asp409Gly
XM_005254203.3:c.968A>G	XP_005254260.1:p.Asp323Gly
XM_011521288.1:c.1127A>G	XP_011519590.1:p.Asp376Gly
XM_011521289.1:c.1127A>G	XP_011519591.1:p.Asp376Gly
XM_011521290.1:c.1127A>G	XP_011519592.1:p.Asp376Gly
XM_005254202.3:c.1226A>G	XP_005254259.1:p.Asp409Gly
XM_011521289.3:c.1127A>G	XP_011519591.1:p.Asp376Gly
NM_152594.3:c.1190A>G MANE Select	NP_689807.1:p.Asp397Gly