Canonical Allele Identifier: CA391934144

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1061139
• ClinVar RCV Id: RCV001370671 ; RCV001786479
• dbSNP Id: rs2141016537
• MyVariant Identifiers: chr15:g.38643633G>C (hg19) ; chr15:g.38351432G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351432G>C , CM000677.2:g.38351432G>C	GRCh38
NC_000015.9:g.38643633G>C , CM000677.1:g.38643633G>C	GRCh37
NC_000015.8:g.36430925G>C	NCBI36
NG_008980.1:g.103582G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1103G>C MANE Select	ENSP00000299084.4:p.Cys368Ser
ENST00000299084.8:c.1103G>C	ENSP00000299084.4:p.Cys368Ser
NM_152594.2:c.1103G>C	NP_689807.1:p.Cys368Ser
XM_005254202.2:c.1139G>C	XP_005254259.1:p.Cys380Ser
XM_005254203.3:c.881G>C	XP_005254260.1:p.Cys294Ser
XM_011521288.1:c.1040G>C	XP_011519590.1:p.Cys347Ser
XM_011521289.1:c.1040G>C	XP_011519591.1:p.Cys347Ser
XM_011521290.1:c.1040G>C	XP_011519592.1:p.Cys347Ser
XM_005254202.3:c.1139G>C	XP_005254259.1:p.Cys380Ser
XM_011521289.3:c.1040G>C	XP_011519591.1:p.Cys347Ser
NM_152594.3:c.1103G>C MANE Select	NP_689807.1:p.Cys368Ser