Canonical Allele Identifier: CA391933642

Gene: SPRED1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351293A>T , CM000677.2:g.38351293A>T	GRCh38
NC_000015.9:g.38643494A>T , CM000677.1:g.38643494A>T	GRCh37
NC_000015.8:g.36430786A>T	NCBI36
NG_008980.1:g.103443A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.964A>T MANE Select	ENSP00000299084.4:p.Lys322Ter
ENST00000299084.8:c.964A>T	ENSP00000299084.4:p.Lys322Ter
NM_152594.2:c.964A>T	NP_689807.1:p.Lys322Ter
XM_005254202.2:c.1000A>T	XP_005254259.1:p.Lys334Ter
XM_005254203.3:c.742A>T	XP_005254260.1:p.Lys248Ter
XM_011521288.1:c.901A>T	XP_011519590.1:p.Lys301Ter
XM_011521289.1:c.901A>T	XP_011519591.1:p.Lys301Ter
XM_011521290.1:c.901A>T	XP_011519592.1:p.Lys301Ter
XM_005254202.3:c.1000A>T	XP_005254259.1:p.Lys334Ter
XM_011521289.3:c.901A>T	XP_011519591.1:p.Lys301Ter
NM_152594.3:c.964A>T MANE Select	NP_689807.1:p.Lys322Ter