Canonical Allele Identifier: CA391933660

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38351301-A-C
• MyVariant Identifiers: chr15:g.38643502A>C (hg19) ; chr15:g.38351301A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351301A>C , CM000677.2:g.38351301A>C	GRCh38
NC_000015.9:g.38643502A>C , CM000677.1:g.38643502A>C	GRCh37
NC_000015.8:g.36430794A>C	NCBI36
NG_008980.1:g.103451A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.972A>C MANE Select	ENSP00000299084.4:p.Lys324Asn
ENST00000299084.8:c.972A>C	ENSP00000299084.4:p.Lys324Asn
NM_152594.2:c.972A>C	NP_689807.1:p.Lys324Asn
XM_005254202.2:c.1008A>C	XP_005254259.1:p.Lys336Asn
XM_005254203.3:c.750A>C	XP_005254260.1:p.Lys250Asn
XM_011521288.1:c.909A>C	XP_011519590.1:p.Lys303Asn
XM_011521289.1:c.909A>C	XP_011519591.1:p.Lys303Asn
XM_011521290.1:c.909A>C	XP_011519592.1:p.Lys303Asn
XM_005254202.3:c.1008A>C	XP_005254259.1:p.Lys336Asn
XM_011521289.3:c.909A>C	XP_011519591.1:p.Lys303Asn
NM_152594.3:c.972A>C MANE Select	NP_689807.1:p.Lys324Asn