Canonical Allele Identifier: CA391933591

Gene: SPRED1

Linked Data

• MyVariant Identifiers: chr15:g.38643472G>T (hg19) ; chr15:g.38351271G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351271G>T , CM000677.2:g.38351271G>T	GRCh38
NC_000015.9:g.38643472G>T , CM000677.1:g.38643472G>T	GRCh37
NC_000015.8:g.36430764G>T	NCBI36
NG_008980.1:g.103421G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.942G>T MANE Select	ENSP00000299084.4:p.Gln314His
ENST00000299084.8:c.942G>T	ENSP00000299084.4:p.Gln314His
NM_152594.2:c.942G>T	NP_689807.1:p.Gln314His
XM_005254202.2:c.978G>T	XP_005254259.1:p.Gln326His
XM_005254203.3:c.720G>T	XP_005254260.1:p.Gln240His
XM_011521288.1:c.879G>T	XP_011519590.1:p.Gln293His
XM_011521289.1:c.879G>T	XP_011519591.1:p.Gln293His
XM_011521290.1:c.879G>T	XP_011519592.1:p.Gln293His
XM_005254202.3:c.978G>T	XP_005254259.1:p.Gln326His
XM_011521289.3:c.879G>T	XP_011519591.1:p.Gln293His
NM_152594.3:c.942G>T MANE Select	NP_689807.1:p.Gln314His