Canonical Allele Identifier: CA1144707

Gene: FDPS RUSC1-AS1

Linked Data

• dbSNP Id: rs769193201
• ExAC: 1:155288083 G / T
• gnomAD v2: 1-155288083-G-T
• gnomAD v4: 1-155318292-G-T
• MyVariant Identifiers: chr1:g.155288083G>T (hg19) ; chr1:g.155318292G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155318292G>T , CM000663.2:g.155318292G>T	GRCh38
NC_000001.10:g.155288083G>T , CM000663.1:g.155288083G>T	GRCh37
NC_000001.9:g.153554707G>T	NCBI36
NG_045218.1:g.14545G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368356.9:c.684+1G>T (FDPS) MANE Select	ENSP00000357340.4:n.684+1G>T
ENST00000356657.10:c.684+1G>T (FDPS)	ENSP00000349078.6:n.684+1G>T
ENST00000368356.8:c.684+1G>T (FDPS)	ENSP00000357340.4:n.684+1G>T
ENST00000447866.5:c.486+1G>T (FDPS)	ENSP00000391755.1:n.486+1G>T
ENST00000461507.5:n.651G>T (FDPS)
ENST00000467076.5:c.486+1G>T (FDPS)	ENSP00000480142.1:n.486+1G>T
ENST00000468479.5:n.698+1G>T (FDPS)
ENST00000470171.5:n.596+1G>T (FDPS)
ENST00000471117.5:n.449G>T (FDPS)
ENST00000477057.5:n.579+1G>T (FDPS)
ENST00000489003.5:n.581G>T (FDPS)
ENST00000491013.5:c.684+1G>T (FDPS)	ENSP00000479557.1:n.684+1G>T
ENST00000492244.5:n.104+1G>T (FDPS)
ENST00000492887.5:n.117+1G>T (FDPS)
ENST00000495308.5:n.582G>T (FDPS)
ENST00000611010.4:c.171+1G>T (FDPS)	ENSP00000483188.1:n.171+1G>T
ENST00000612683.1:c.486+1G>T (FDPS)	ENSP00000478235.1:n.486+1G>T
NM_001135821.1:c.684+1G>T (FDPS)	NP_001129293.1:n.684+1G>T
NM_001135822.1:c.486+1G>T (FDPS)	NP_001129294.1:n.486+1G>T
NM_001242824.1:c.486+1G>T (FDPS)	NP_001229753.1:n.486+1G>T
NM_001242825.1:c.171+1G>T (FDPS)	NP_001229754.1:n.171+1G>T
NM_002004.3:c.684+1G>T (FDPS)	NP_001995.1:n.684+1G>T
XM_005244962.1:c.486+1G>T (FDPS)	XP_005245019.1:n.486+1G>T
XM_005244963.1:c.486+1G>T (FDPS)	XP_005245020.1:n.486+1G>T
NR_145424.1:n.600C>A (RUSC1-AS1)
NR_145425.1:n.325C>A (RUSC1-AS1)
XM_024454066.1:c.684+1G>T (FDPS)	XP_024309834.1:n.684+1G>T
XM_024454070.1:c.684+1G>T (FDPS)	XP_024309838.1:n.684+1G>T
XM_024454071.1:c.486+1G>T (FDPS)	XP_024309839.1:n.486+1G>T
XM_024454072.1:c.486+1G>T (FDPS)	XP_024309840.1:n.486+1G>T
XM_024454073.1:c.486+1G>T (FDPS)	XP_024309841.1:n.486+1G>T
XM_024454074.1:c.486+1G>T (FDPS)	XP_024309842.1:n.486+1G>T
XM_024454076.1:c.171+1G>T (FDPS)	XP_024309844.1:n.171+1G>T
NM_001135821.2:c.684+1G>T (FDPS)	NP_001129293.1:n.684+1G>T
NM_001135822.2:c.486+1G>T (FDPS)	NP_001129294.1:n.486+1G>T
NM_001242824.2:c.486+1G>T (FDPS)	NP_001229753.1:n.486+1G>T
NM_002004.4:c.684+1G>T (FDPS) MANE Select	NP_001995.1:n.684+1G>T
NM_001242825.2:c.171+1G>T (FDPS)	NP_001229754.1:n.171+1G>T
NM_001378424.1:c.486+1G>T (FDPS)	NP_001365353.1:n.486+1G>T
NM_001378425.1:c.486+1G>T (FDPS)	NP_001365354.1:n.486+1G>T