Canonical Allele Identifier: CA391934721

Gene: SPRED1

Linked Data

• MyVariant Identifiers: chr15:g.38643795C>A (hg19) ; chr15:g.38351594C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351594C>A , CM000677.2:g.38351594C>A	GRCh38
NC_000015.9:g.38643795C>A , CM000677.1:g.38643795C>A	GRCh37
NC_000015.8:g.36431087C>A	NCBI36
NG_008980.1:g.103744C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1265C>A MANE Select	ENSP00000299084.4:p.Pro422His
ENST00000299084.8:c.1265C>A	ENSP00000299084.4:p.Pro422His
NM_152594.2:c.1265C>A	NP_689807.1:p.Pro422His
XM_005254202.2:c.1301C>A	XP_005254259.1:p.Pro434His
XM_005254203.3:c.1043C>A	XP_005254260.1:p.Pro348His
XM_011521288.1:c.1202C>A	XP_011519590.1:p.Pro401His
XM_011521289.1:c.1202C>A	XP_011519591.1:p.Pro401His
XM_011521290.1:c.1202C>A	XP_011519592.1:p.Pro401His
XM_005254202.3:c.1301C>A	XP_005254259.1:p.Pro434His
XM_011521289.3:c.1202C>A	XP_011519591.1:p.Pro401His
NM_152594.3:c.1265C>A MANE Select	NP_689807.1:p.Pro422His