Canonical Allele Identifier: CA391933615

Gene: SPRED1

Linked Data

• MyVariant Identifiers: chr15:g.38643484A>C (hg19) ; chr15:g.38351283A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351283A>C , CM000677.2:g.38351283A>C	GRCh38
NC_000015.9:g.38643484A>C , CM000677.1:g.38643484A>C	GRCh37
NC_000015.8:g.36430776A>C	NCBI36
NG_008980.1:g.103433A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.954A>C MANE Select	ENSP00000299084.4:p.Leu318Phe
ENST00000299084.8:c.954A>C	ENSP00000299084.4:p.Leu318Phe
NM_152594.2:c.954A>C	NP_689807.1:p.Leu318Phe
XM_005254202.2:c.990A>C	XP_005254259.1:p.Leu330Phe
XM_005254203.3:c.732A>C	XP_005254260.1:p.Leu244Phe
XM_011521288.1:c.891A>C	XP_011519590.1:p.Leu297Phe
XM_011521289.1:c.891A>C	XP_011519591.1:p.Leu297Phe
XM_011521290.1:c.891A>C	XP_011519592.1:p.Leu297Phe
XM_005254202.3:c.990A>C	XP_005254259.1:p.Leu330Phe
XM_011521289.3:c.891A>C	XP_011519591.1:p.Leu297Phe
NM_152594.3:c.954A>C MANE Select	NP_689807.1:p.Leu318Phe