Canonical Allele Identifier: CA391933023

Gene: SPRED1

Linked Data

• MyVariant Identifiers: chr15:g.38643223G>T (hg19) ; chr15:g.38351022G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351022G>T , CM000677.2:g.38351022G>T	GRCh38
NC_000015.9:g.38643223G>T , CM000677.1:g.38643223G>T	GRCh37
NC_000015.8:g.36430515G>T	NCBI36
NG_008980.1:g.103172G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.693G>T MANE Select	ENSP00000299084.4:p.Leu231Phe
ENST00000299084.8:c.693G>T	ENSP00000299084.4:p.Leu231Phe
NM_152594.2:c.693G>T	NP_689807.1:p.Leu231Phe
XM_005254202.2:c.729G>T	XP_005254259.1:p.Leu243Phe
XM_005254203.3:c.471G>T	XP_005254260.1:p.Leu157Phe
XM_011521288.1:c.630G>T	XP_011519590.1:p.Leu210Phe
XM_011521289.1:c.630G>T	XP_011519591.1:p.Leu210Phe
XM_011521290.1:c.630G>T	XP_011519592.1:p.Leu210Phe
XM_005254202.3:c.729G>T	XP_005254259.1:p.Leu243Phe
XM_011521289.3:c.630G>T	XP_011519591.1:p.Leu210Phe
NM_152594.3:c.693G>T MANE Select	NP_689807.1:p.Leu231Phe