Canonical Allele Identifier: CA391933229

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2818580
• ClinVar RCV Id: RCV003601650
• MyVariant Identifiers: chr15:g.38643312A>G (hg19) ; chr15:g.38351111A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351111A>G , CM000677.2:g.38351111A>G	GRCh38
NC_000015.9:g.38643312A>G , CM000677.1:g.38643312A>G	GRCh37
NC_000015.8:g.36430604A>G	NCBI36
NG_008980.1:g.103261A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.782A>G MANE Select	ENSP00000299084.4:p.Tyr261Cys
ENST00000299084.8:c.782A>G	ENSP00000299084.4:p.Tyr261Cys
NM_152594.2:c.782A>G	NP_689807.1:p.Tyr261Cys
XM_005254202.2:c.818A>G	XP_005254259.1:p.Tyr273Cys
XM_005254203.3:c.560A>G	XP_005254260.1:p.Tyr187Cys
XM_011521288.1:c.719A>G	XP_011519590.1:p.Tyr240Cys
XM_011521289.1:c.719A>G	XP_011519591.1:p.Tyr240Cys
XM_011521290.1:c.719A>G	XP_011519592.1:p.Tyr240Cys
XM_005254202.3:c.818A>G	XP_005254259.1:p.Tyr273Cys
XM_011521289.3:c.719A>G	XP_011519591.1:p.Tyr240Cys
NM_152594.3:c.782A>G MANE Select	NP_689807.1:p.Tyr261Cys