Canonical Allele Identifier: CA269293463

Gene: SPRED1

Linked Data

• dbSNP Id: rs904428917
• gnomAD v2: 15-38643772-A-C
• gnomAD v4: 15-38351571-A-C
• MyVariant Identifiers: chr15:g.38643772A>C (hg19) ; chr15:g.38351571A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351571A>C , CM000677.2:g.38351571A>C	GRCh38
NC_000015.9:g.38643772A>C , CM000677.1:g.38643772A>C	GRCh37
NC_000015.8:g.36431064A>C	NCBI36
NG_008980.1:g.103721A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.1242A>C MANE Select	ENSP00000299084.4:p.Val414=
ENST00000299084.8:c.1242A>C	ENSP00000299084.4:p.Val414=
NM_152594.2:c.1242A>C	NP_689807.1:p.Val414=
XM_005254202.2:c.1278A>C	XP_005254259.1:p.Val426=
XM_005254203.3:c.1020A>C	XP_005254260.1:p.Val340=
XM_011521288.1:c.1179A>C	XP_011519590.1:p.Val393=
XM_011521289.1:c.1179A>C	XP_011519591.1:p.Val393=
XM_011521290.1:c.1179A>C	XP_011519592.1:p.Val393=
XM_005254202.3:c.1278A>C	XP_005254259.1:p.Val426=
XM_011521289.3:c.1179A>C	XP_011519591.1:p.Val393=
NM_152594.3:c.1242A>C MANE Select	NP_689807.1:p.Val414=