Canonical Allele Identifier: CA16606923

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 388517
• ClinVar RCV Id: RCV000443530
• dbSNP Id: rs1057523137
• MyVariant Identifiers: chr15:g.38641676A>C (hg19) ; chr15:g.38349475A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38349475A>C , CM000677.2:g.38349475A>C	GRCh38
NC_000015.9:g.38641676A>C , CM000677.1:g.38641676A>C	GRCh37
NC_000015.8:g.36428968A>C	NCBI36
NG_008980.1:g.101625A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.636A>C MANE Select	ENSP00000299084.4:p.Val212=
ENST00000299084.8:c.636A>C	ENSP00000299084.4:p.Val212=
NM_152594.2:c.636A>C	NP_689807.1:p.Val212=
XM_005254202.2:c.672A>C	XP_005254259.1:p.Val224=
XM_005254203.3:c.414A>C	XP_005254260.1:p.Val138=
XM_011521288.1:c.573A>C	XP_011519590.1:p.Val191=
XM_011521289.1:c.573A>C	XP_011519591.1:p.Val191=
XM_011521290.1:c.573A>C	XP_011519592.1:p.Val191=
XM_005254202.3:c.672A>C	XP_005254259.1:p.Val224=
XM_011521289.3:c.573A>C	XP_011519591.1:p.Val191=
NM_152594.3:c.636A>C MANE Select	NP_689807.1:p.Val212=