Canonical Allele Identifier: CA490011850

Gene: SPRED1

Linked Data

• dbSNP Id: rs1476116119
• gnomAD v2: 15-38643379-T-C
• gnomAD v4: 15-38351178-T-C
• MyVariant Identifiers: chr15:g.38643379T>C (hg19) ; chr15:g.38351178T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351178T>C , CM000677.2:g.38351178T>C	GRCh38
NC_000015.9:g.38643379T>C , CM000677.1:g.38643379T>C	GRCh37
NC_000015.8:g.36430671T>C	NCBI36
NG_008980.1:g.103328T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.849T>C MANE Select	ENSP00000299084.4:p.Ser283=
ENST00000299084.8:c.849T>C	ENSP00000299084.4:p.Ser283=
NM_152594.2:c.849T>C	NP_689807.1:p.Ser283=
XM_005254202.2:c.885T>C	XP_005254259.1:p.Ser295=
XM_005254203.3:c.627T>C	XP_005254260.1:p.Ser209=
XM_011521288.1:c.786T>C	XP_011519590.1:p.Ser262=
XM_011521289.1:c.786T>C	XP_011519591.1:p.Ser262=
XM_011521290.1:c.786T>C	XP_011519592.1:p.Ser262=
XM_005254202.3:c.885T>C	XP_005254259.1:p.Ser295=
XM_011521289.3:c.786T>C	XP_011519591.1:p.Ser262=
NM_152594.3:c.849T>C MANE Select	NP_689807.1:p.Ser283=