Canonical Allele Identifier: CA142268

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 47964
• ClinVar RCV Id: RCV000041237
• dbSNP Id: rs397517870
• MyVariant Identifiers: chr15:g.38643638C>T (hg19) ; chr15:g.38351437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351437C>T , CM000677.2:g.38351437C>T	GRCh38
NC_000015.9:g.38643638C>T , CM000677.1:g.38643638C>T	GRCh37
NC_000015.8:g.36430930C>T	NCBI36
NG_008980.1:g.103587C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1108C>T MANE Select	ENSP00000299084.4:p.Leu370Phe
ENST00000299084.8:c.1108C>T	ENSP00000299084.4:p.Leu370Phe
NM_152594.2:c.1108C>T	NP_689807.1:p.Leu370Phe
XM_005254202.2:c.1144C>T	XP_005254259.1:p.Leu382Phe
XM_005254203.3:c.886C>T	XP_005254260.1:p.Leu296Phe
XM_011521288.1:c.1045C>T	XP_011519590.1:p.Leu349Phe
XM_011521289.1:c.1045C>T	XP_011519591.1:p.Leu349Phe
XM_011521290.1:c.1045C>T	XP_011519592.1:p.Leu349Phe
XM_005254202.3:c.1144C>T	XP_005254259.1:p.Leu382Phe
XM_011521289.3:c.1045C>T	XP_011519591.1:p.Leu349Phe
NM_152594.3:c.1108C>T MANE Select	NP_689807.1:p.Leu370Phe