Canonical Allele Identifier: CA391933019

Gene: SPRED1

Linked Data

• MyVariant Identifiers: chr15:g.38643221T>G (hg19) ; chr15:g.38351020T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351020T>G , CM000677.2:g.38351020T>G	GRCh38
NC_000015.9:g.38643221T>G , CM000677.1:g.38643221T>G	GRCh37
NC_000015.8:g.36430513T>G	NCBI36
NG_008980.1:g.103170T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.691T>G MANE Select	ENSP00000299084.4:p.Leu231Val
ENST00000299084.8:c.691T>G	ENSP00000299084.4:p.Leu231Val
NM_152594.2:c.691T>G	NP_689807.1:p.Leu231Val
XM_005254202.2:c.727T>G	XP_005254259.1:p.Leu243Val
XM_005254203.3:c.469T>G	XP_005254260.1:p.Leu157Val
XM_011521288.1:c.628T>G	XP_011519590.1:p.Leu210Val
XM_011521289.1:c.628T>G	XP_011519591.1:p.Leu210Val
XM_011521290.1:c.628T>G	XP_011519592.1:p.Leu210Val
XM_005254202.3:c.727T>G	XP_005254259.1:p.Leu243Val
XM_011521289.3:c.628T>G	XP_011519591.1:p.Leu210Val
NM_152594.3:c.691T>G MANE Select	NP_689807.1:p.Leu231Val