Canonical Allele Identifier: CA7470209

Gene: SPRED1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351273C>T , CM000677.2:g.38351273C>T	GRCh38
NC_000015.9:g.38643474C>T , CM000677.1:g.38643474C>T	GRCh37
NC_000015.8:g.36430766C>T	NCBI36
NG_008980.1:g.103423C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152594.3:c.944C>T MANE Select	NP_689807.1:p.Pro315Leu
ENST00000299084.9:c.944C>T MANE Select	ENSP00000299084.4:p.Pro315Leu
NM_152594.2:c.944C>T	NP_689807.1:p.Pro315Leu
ENST00000299084.8:c.944C>T	ENSP00000299084.4:p.Pro315Leu
XM_005254202.2:c.980C>T	XP_005254259.1:p.Pro327Leu
XM_005254202.3:c.980C>T	XP_005254259.1:p.Pro327Leu
XM_005254203.3:c.722C>T	XP_005254260.1:p.Pro241Leu
XM_011521288.1:c.881C>T	XP_011519590.1:p.Pro294Leu
XM_011521289.1:c.881C>T	XP_011519591.1:p.Pro294Leu
XM_011521289.3:c.881C>T	XP_011519591.1:p.Pro294Leu
XM_011521290.1:c.881C>T	XP_011519592.1:p.Pro294Leu