Canonical Allele Identifier: CA391933783

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 592540
• ClinVar RCV Id: RCV000727649 ; RCV001862131
• dbSNP Id: rs1566876895
• MyVariant Identifiers: chr15:g.38643545C>T (hg19) ; chr15:g.38351344C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351344C>T , CM000677.2:g.38351344C>T	GRCh38
NC_000015.9:g.38643545C>T , CM000677.1:g.38643545C>T	GRCh37
NC_000015.8:g.36430837C>T	NCBI36
NG_008980.1:g.103494C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1015C>T MANE Select	ENSP00000299084.4:p.Gln339Ter
ENST00000299084.8:c.1015C>T	ENSP00000299084.4:p.Gln339Ter
NM_152594.2:c.1015C>T	NP_689807.1:p.Gln339Ter
XM_005254202.2:c.1051C>T	XP_005254259.1:p.Gln351Ter
XM_005254203.3:c.793C>T	XP_005254260.1:p.Gln265Ter
XM_011521288.1:c.952C>T	XP_011519590.1:p.Gln318Ter
XM_011521289.1:c.952C>T	XP_011519591.1:p.Gln318Ter
XM_011521290.1:c.952C>T	XP_011519592.1:p.Gln318Ter
XM_005254202.3:c.1051C>T	XP_005254259.1:p.Gln351Ter
XM_011521289.3:c.952C>T	XP_011519591.1:p.Gln318Ter
NM_152594.3:c.1015C>T MANE Select	NP_689807.1:p.Gln339Ter