Canonical Allele Identifier: CA391934219

Gene: SPRED1

Linked Data

• MyVariant Identifiers: chr15:g.38591674T>C (hg19) ; chr15:g.38299473T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38299473T>C , CM000677.2:g.38299473T>C	GRCh38
NC_000015.9:g.38591674T>C , CM000677.1:g.38591674T>C	GRCh37
NC_000015.8:g.36378966T>C	NCBI36
NG_008980.1:g.51623T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.133T>C MANE Select	ENSP00000299084.4:p.Phe45Leu
ENST00000299084.8:c.133T>C	ENSP00000299084.4:p.Phe45Leu
ENST00000561205.1:n.471T>C
ENST00000561317.1:c.70T>C	ENSP00000453680.1:p.Phe24Leu
NM_152594.2:c.133T>C	NP_689807.1:p.Phe45Leu
XM_005254202.2:c.169T>C	XP_005254259.1:p.Phe57Leu
XM_005254203.3:c.-15-22768T>C	XP_005254260.1:n.-15-22768T>C
XM_011521288.1:c.70T>C	XP_011519590.1:p.Phe24Leu
XM_011521289.1:c.70T>C	XP_011519591.1:p.Phe24Leu
XM_011521290.1:c.70T>C	XP_011519592.1:p.Phe24Leu
XM_005254202.3:c.169T>C	XP_005254259.1:p.Phe57Leu
XM_011521289.3:c.70T>C	XP_011519591.1:p.Phe24Leu
NM_152594.3:c.133T>C MANE Select	NP_689807.1:p.Phe45Leu