Canonical Allele Identifier: CA2543396742

Gene: SPRED1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38352219T>C , CM000677.2:g.38352219T>C	GRCh38
NC_000015.9:g.38644420T>C , CM000677.1:g.38644420T>C	GRCh37
NC_000015.8:g.36431712T>C	NCBI36
NG_008980.1:g.104369T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.*555T>C MANE Select	ENSP00000299084.4:n.*555T>C
ENST00000299084.8:c.*555T>C	ENSP00000299084.4:n.*555T>C
NM_152594.2:c.*555T>C	NP_689807.1:n.*555T>C
XM_005254202.2:c.*555T>C	XP_005254259.1:n.*555T>C
XM_005254203.3:c.*555T>C	XP_005254260.1:n.*555T>C
XM_011521288.1:c.*555T>C	XP_011519590.1:n.*555T>C
XM_011521289.1:c.*555T>C	XP_011519591.1:n.*555T>C
XM_011521290.1:c.*555T>C	XP_011519592.1:n.*555T>C
XM_005254202.3:c.*555T>C	XP_005254259.1:n.*555T>C
XM_011521289.3:c.*555T>C	XP_011519591.1:n.*555T>C
NM_152594.3:c.*555T>C MANE Select	NP_689807.1:n.*555T>C