Canonical Allele Identifier: CA391933468

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38351213-C-A
• MyVariant Identifiers: chr15:g.38643414C>A (hg19) ; chr15:g.38351213C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351213C>A , CM000677.2:g.38351213C>A	GRCh38
NC_000015.9:g.38643414C>A , CM000677.1:g.38643414C>A	GRCh37
NC_000015.8:g.36430706C>A	NCBI36
NG_008980.1:g.103363C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.884C>A MANE Select	ENSP00000299084.4:p.Ser295Tyr
ENST00000299084.8:c.884C>A	ENSP00000299084.4:p.Ser295Tyr
NM_152594.2:c.884C>A	NP_689807.1:p.Ser295Tyr
XM_005254202.2:c.920C>A	XP_005254259.1:p.Ser307Tyr
XM_005254203.3:c.662C>A	XP_005254260.1:p.Ser221Tyr
XM_011521288.1:c.821C>A	XP_011519590.1:p.Ser274Tyr
XM_011521289.1:c.821C>A	XP_011519591.1:p.Ser274Tyr
XM_011521290.1:c.821C>A	XP_011519592.1:p.Ser274Tyr
XM_005254202.3:c.920C>A	XP_005254259.1:p.Ser307Tyr
XM_011521289.3:c.821C>A	XP_011519591.1:p.Ser274Tyr
NM_152594.3:c.884C>A MANE Select	NP_689807.1:p.Ser295Tyr