Canonical Allele Identifier: CA7470191

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1073547
• ClinVar RCV Id: RCV001386578
• dbSNP Id: rs755557783
• ExAC: 15:38643371 C / T
• MyVariant Identifiers: chr15:g.38643371C>T (hg19) ; chr15:g.38351170C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351170C>T , CM000677.2:g.38351170C>T	GRCh38
NC_000015.9:g.38643371C>T , CM000677.1:g.38643371C>T	GRCh37
NC_000015.8:g.36430663C>T	NCBI36
NG_008980.1:g.103320C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.841C>T MANE Select	ENSP00000299084.4:p.Gln281Ter
ENST00000299084.8:c.841C>T	ENSP00000299084.4:p.Gln281Ter
NM_152594.2:c.841C>T	NP_689807.1:p.Gln281Ter
XM_005254202.2:c.877C>T	XP_005254259.1:p.Gln293Ter
XM_005254203.3:c.619C>T	XP_005254260.1:p.Gln207Ter
XM_011521288.1:c.778C>T	XP_011519590.1:p.Gln260Ter
XM_011521289.1:c.778C>T	XP_011519591.1:p.Gln260Ter
XM_011521290.1:c.778C>T	XP_011519592.1:p.Gln260Ter
XM_005254202.3:c.877C>T	XP_005254259.1:p.Gln293Ter
XM_011521289.3:c.778C>T	XP_011519591.1:p.Gln260Ter
NM_152594.3:c.841C>T MANE Select	NP_689807.1:p.Gln281Ter