Canonical Allele Identifier: CA2170812994

Gene: SPRED1

Linked Data

• dbSNP Id: rs1888502652
• gnomAD v4: 15-38352094-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38352094A>C , CM000677.2:g.38352094A>C	GRCh38
NC_000015.9:g.38644295A>C , CM000677.1:g.38644295A>C	GRCh37
NC_000015.8:g.36431587A>C	NCBI36
NG_008980.1:g.104244A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.*430A>C MANE Select	ENSP00000299084.4:n.*430A>C
ENST00000299084.8:c.*430A>C	ENSP00000299084.4:n.*430A>C
NM_152594.2:c.*430A>C	NP_689807.1:n.*430A>C
XM_005254202.2:c.*430A>C	XP_005254259.1:n.*430A>C
XM_005254203.3:c.*430A>C	XP_005254260.1:n.*430A>C
XM_011521288.1:c.*430A>C	XP_011519590.1:n.*430A>C
XM_011521289.1:c.*430A>C	XP_011519591.1:n.*430A>C
XM_011521290.1:c.*430A>C	XP_011519592.1:n.*430A>C
XM_005254202.3:c.*430A>C	XP_005254259.1:n.*430A>C
XM_011521289.3:c.*430A>C	XP_011519591.1:n.*430A>C
NM_152594.3:c.*430A>C MANE Select	NP_689807.1:n.*430A>C