Canonical Allele Identifier: CA391933020

Gene: SPRED1

Linked Data

• MyVariant Identifiers: chr15:g.38643222T>A (hg19) ; chr15:g.38351021T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351021T>A , CM000677.2:g.38351021T>A	GRCh38
NC_000015.9:g.38643222T>A , CM000677.1:g.38643222T>A	GRCh37
NC_000015.8:g.36430514T>A	NCBI36
NG_008980.1:g.103171T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.692T>A MANE Select	ENSP00000299084.4:p.Leu231Ter
ENST00000299084.8:c.692T>A	ENSP00000299084.4:p.Leu231Ter
NM_152594.2:c.692T>A	NP_689807.1:p.Leu231Ter
XM_005254202.2:c.728T>A	XP_005254259.1:p.Leu243Ter
XM_005254203.3:c.470T>A	XP_005254260.1:p.Leu157Ter
XM_011521288.1:c.629T>A	XP_011519590.1:p.Leu210Ter
XM_011521289.1:c.629T>A	XP_011519591.1:p.Leu210Ter
XM_011521290.1:c.629T>A	XP_011519592.1:p.Leu210Ter
XM_005254202.3:c.728T>A	XP_005254259.1:p.Leu243Ter
XM_011521289.3:c.629T>A	XP_011519591.1:p.Leu210Ter
NM_152594.3:c.692T>A MANE Select	NP_689807.1:p.Leu231Ter