Canonical Allele Identifier: CA269293438

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 536690
• ClinVar RCV Id: RCV000645298
• dbSNP Id: rs201837340
• gnomAD v2: 15-38643215-G-T
• gnomAD v4: 15-38351014-G-T
• MyVariant Identifiers: chr15:g.38643215G>T (hg19) ; chr15:g.38351014G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351014G>T , CM000677.2:g.38351014G>T	GRCh38
NC_000015.9:g.38643215G>T , CM000677.1:g.38643215G>T	GRCh37
NC_000015.8:g.36430507G>T	NCBI36
NG_008980.1:g.103164G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.685G>T MANE Select	ENSP00000299084.4:p.Val229Phe
ENST00000299084.8:c.685G>T	ENSP00000299084.4:p.Val229Phe
NM_152594.2:c.685G>T	NP_689807.1:p.Val229Phe
XM_005254202.2:c.721G>T	XP_005254259.1:p.Val241Phe
XM_005254203.3:c.463G>T	XP_005254260.1:p.Val155Phe
XM_011521288.1:c.622G>T	XP_011519590.1:p.Val208Phe
XM_011521289.1:c.622G>T	XP_011519591.1:p.Val208Phe
XM_011521290.1:c.622G>T	XP_011519592.1:p.Val208Phe
XM_005254202.3:c.721G>T	XP_005254259.1:p.Val241Phe
XM_011521289.3:c.622G>T	XP_011519591.1:p.Val208Phe
NM_152594.3:c.685G>T MANE Select	NP_689807.1:p.Val229Phe