Canonical Allele Identifier: CA88783433

Gene: PARL

Linked Data

• dbSNP Id: rs1026891596
• gnomAD v3: 3-183867924-A-G
• gnomAD v4: 3-183867924-A-G
• MyVariant Identifiers: chr3:g.183585712A>G (hg19) ; chr3:g.183867924A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183867924A>G , CM000665.2:g.183867924A>G	GRCh38
NC_000003.11:g.183585712A>G , CM000665.1:g.183585712A>G	GRCh37
NC_000003.10:g.185068406A>G	NCBI36
NG_046164.1:g.21982T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317096.9:c.262T>C MANE Select	ENSP00000325421.5:p.Phe88Leu
ENST00000638817.1:c.262T>C	ENSP00000492596.1:p.Phe88Leu
ENST00000639100.1:c.-432T>C	ENSP00000491186.1:n.-432T>C
ENST00000639401.1:c.262T>C	ENSP00000491227.1:p.Phe88Leu
ENST00000639900.1:c.262T>C	ENSP00000491109.1:p.Phe88Leu
ENST00000311101.9:c.262T>C	ENSP00000310676.5:p.Phe88Leu
ENST00000317096.8:c.262T>C	ENSP00000325421.4:p.Phe88Leu
ENST00000421484.5:c.262T>C	ENSP00000404421.1:p.Phe88Leu
ENST00000435888.5:c.262T>C	ENSP00000402137.1:p.Phe88Leu
ENST00000449306.1:c.143T>C
ENST00000469056.1:n.184T>C
NM_001037639.1:c.262T>C	NP_001032728.1:p.Phe88Leu
NM_018622.5:c.262T>C	NP_061092.3:p.Phe88Leu
XM_005247582.3:c.262T>C	XP_005247639.1:p.Phe88Leu
XM_005247584.3:c.262T>C	XP_005247641.1:p.Phe88Leu
XM_005247587.1:c.-368T>C	XP_005247644.1:n.-368T>C
NM_001037639.2:c.262T>C	NP_001032728.1:p.Phe88Leu
NM_001324436.1:c.262T>C	NP_001311365.1:p.Phe88Leu
NM_001324437.1:c.262T>C	NP_001311366.1:p.Phe88Leu
NM_001324438.1:c.262T>C	NP_001311367.1:p.Phe88Leu
NM_018622.6:c.262T>C	NP_061092.3:p.Phe88Leu
NR_136893.1:n.324T>C
XM_005247582.5:c.262T>C	XP_005247639.1:p.Phe88Leu
XM_017006800.2:c.262T>C	XP_016862289.1:p.Phe88Leu
XM_017006801.1:c.262T>C	XP_016862290.1:p.Phe88Leu
XM_017006802.1:c.262T>C	XP_016862291.1:p.Phe88Leu
XM_017006803.1:c.-368T>C	XP_016862292.1:n.-368T>C
XM_024453628.1:c.-312T>C	XP_024309396.1:n.-312T>C
XM_024453629.1:c.-368T>C	XP_024309397.1:n.-368T>C
XM_024453630.1:c.-432T>C	XP_024309398.1:n.-432T>C
XM_024453631.1:c.-488T>C	XP_024309399.1:n.-488T>C
XM_024453632.1:c.-488T>C	XP_024309400.1:n.-488T>C
XM_024453633.1:c.-432T>C	XP_024309401.1:n.-432T>C
NM_001037639.3:c.262T>C	NP_001032728.1:p.Phe88Leu
NM_001324436.2:c.262T>C	NP_001311365.1:p.Phe88Leu
NM_001324437.2:c.262T>C	NP_001311366.1:p.Phe88Leu
NM_001324438.2:c.262T>C	NP_001311367.1:p.Phe88Leu
NM_018622.7:c.262T>C MANE Select	NP_061092.3:p.Phe88Leu
NR_136893.2:n.296T>C