Canonical Allele Identifier: CA391934177

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2682377
• ClinVar RCV Id: RCV003479750
• MyVariant Identifiers: chr15:g.38643642G>C (hg19) ; chr15:g.38351441G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351441G>C , CM000677.2:g.38351441G>C	GRCh38
NC_000015.9:g.38643642G>C , CM000677.1:g.38643642G>C	GRCh37
NC_000015.8:g.36430934G>C	NCBI36
NG_008980.1:g.103591G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1112G>C MANE Select	ENSP00000299084.4:p.Cys371Ser
ENST00000299084.8:c.1112G>C	ENSP00000299084.4:p.Cys371Ser
NM_152594.2:c.1112G>C	NP_689807.1:p.Cys371Ser
XM_005254202.2:c.1148G>C	XP_005254259.1:p.Cys383Ser
XM_005254203.3:c.890G>C	XP_005254260.1:p.Cys297Ser
XM_011521288.1:c.1049G>C	XP_011519590.1:p.Cys350Ser
XM_011521289.1:c.1049G>C	XP_011519591.1:p.Cys350Ser
XM_011521290.1:c.1049G>C	XP_011519592.1:p.Cys350Ser
XM_005254202.3:c.1148G>C	XP_005254259.1:p.Cys383Ser
XM_011521289.3:c.1049G>C	XP_011519591.1:p.Cys350Ser
NM_152594.3:c.1112G>C MANE Select	NP_689807.1:p.Cys371Ser