Canonical Allele Identifier: CA489922693

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38299403-G-A
• MyVariant Identifiers: chr15:g.38591604G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38299403G>A , CM000677.2:g.38299403G>A	GRCh38
NC_000015.9:g.38591604G>A , CM000677.1:g.38591604G>A	GRCh37
NC_000015.8:g.36378896G>A	NCBI36
NG_008980.1:g.51553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.63G>A MANE Select	ENSP00000299084.4:p.Val21=
ENST00000299084.8:c.63G>A	ENSP00000299084.4:p.Val21=
ENST00000561205.1:n.401G>A
ENST00000561317.1:c.-1G>A	ENSP00000453680.1:n.-1G>A
NM_152594.2:c.63G>A	NP_689807.1:p.Val21=
XM_005254202.2:c.99G>A	XP_005254259.1:p.Val33=
XM_005254203.3:c.-15-22838G>A	XP_005254260.1:n.-15-22838G>A
XM_011521288.1:c.-1G>A	XP_011519590.1:n.-1G>A
XM_011521289.1:c.-1G>A	XP_011519591.1:n.-1G>A
XM_011521290.1:c.-1G>A	XP_011519592.1:n.-1G>A
XM_005254202.3:c.99G>A	XP_005254259.1:p.Val33=
XM_011521289.3:c.-1G>A	XP_011519591.1:n.-1G>A
NM_152594.3:c.63G>A MANE Select	NP_689807.1:p.Val21=