Canonical Allele Identifier: CA2840660287

Gene: SPRED1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351011T>C , CM000677.2:g.38351011T>C	GRCh38
NC_000015.9:g.38643212T>C , CM000677.1:g.38643212T>C	GRCh37
NC_000015.8:g.36430504T>C	NCBI36
NG_008980.1:g.103161T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.685-3T>C MANE Select	ENSP00000299084.4:n.685-3T>C
ENST00000299084.8:c.685-3T>C	ENSP00000299084.4:n.685-3T>C
NM_152594.2:c.685-3T>C	NP_689807.1:n.685-3T>C
XM_005254202.2:c.721-3T>C	XP_005254259.1:n.721-3T>C
XM_005254203.3:c.463-3T>C	XP_005254260.1:n.463-3T>C
XM_011521288.1:c.622-3T>C	XP_011519590.1:n.622-3T>C
XM_011521289.1:c.622-3T>C	XP_011519591.1:n.622-3T>C
XM_011521290.1:c.622-3T>C	XP_011519592.1:n.622-3T>C
XM_005254202.3:c.721-3T>C	XP_005254259.1:n.721-3T>C
XM_011521289.3:c.622-3T>C	XP_011519591.1:n.622-3T>C
NM_152594.3:c.685-3T>C MANE Select	NP_689807.1:n.685-3T>C