Canonical Allele Identifier: CA391932892

Gene: SPRED1

Linked Data

• MyVariant Identifiers: chr15:g.38641678A>T (hg19) ; chr15:g.38349477A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38349477A>T , CM000677.2:g.38349477A>T	GRCh38
NC_000015.9:g.38641678A>T , CM000677.1:g.38641678A>T	GRCh37
NC_000015.8:g.36428970A>T	NCBI36
NG_008980.1:g.101627A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.638A>T MANE Select	ENSP00000299084.4:p.Gln213Leu
ENST00000299084.8:c.638A>T	ENSP00000299084.4:p.Gln213Leu
NM_152594.2:c.638A>T	NP_689807.1:p.Gln213Leu
XM_005254202.2:c.674A>T	XP_005254259.1:p.Gln225Leu
XM_005254203.3:c.416A>T	XP_005254260.1:p.Gln139Leu
XM_011521288.1:c.575A>T	XP_011519590.1:p.Gln192Leu
XM_011521289.1:c.575A>T	XP_011519591.1:p.Gln192Leu
XM_011521290.1:c.575A>T	XP_011519592.1:p.Gln192Leu
XM_005254202.3:c.674A>T	XP_005254259.1:p.Gln225Leu
XM_011521289.3:c.575A>T	XP_011519591.1:p.Gln192Leu
NM_152594.3:c.638A>T MANE Select	NP_689807.1:p.Gln213Leu