Canonical Allele Identifier: CA391933603

Gene: SPRED1

Linked Data

• dbSNP Id: rs2141016340
• MyVariant Identifiers: chr15:g.38643477C>T (hg19) ; chr15:g.38351276C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351276C>T , CM000677.2:g.38351276C>T	GRCh38
NC_000015.9:g.38643477C>T , CM000677.1:g.38643477C>T	GRCh37
NC_000015.8:g.36430769C>T	NCBI36
NG_008980.1:g.103426C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.947C>T MANE Select	ENSP00000299084.4:p.Ser316Phe
ENST00000299084.8:c.947C>T	ENSP00000299084.4:p.Ser316Phe
NM_152594.2:c.947C>T	NP_689807.1:p.Ser316Phe
XM_005254202.2:c.983C>T	XP_005254259.1:p.Ser328Phe
XM_005254203.3:c.725C>T	XP_005254260.1:p.Ser242Phe
XM_011521288.1:c.884C>T	XP_011519590.1:p.Ser295Phe
XM_011521289.1:c.884C>T	XP_011519591.1:p.Ser295Phe
XM_011521290.1:c.884C>T	XP_011519592.1:p.Ser295Phe
XM_005254202.3:c.983C>T	XP_005254259.1:p.Ser328Phe
XM_011521289.3:c.884C>T	XP_011519591.1:p.Ser295Phe
NM_152594.3:c.947C>T MANE Select	NP_689807.1:p.Ser316Phe