Canonical Allele Identifier: CA1143985

Gene: PKLR

Linked Data

• dbSNP Id: rs757534925
• ExAC: 1:155261689 T / C
• gnomAD v2: 1-155261689-T-C
• gnomAD v4: 1-155291898-T-C
• MyVariant Identifiers: chr1:g.155261689T>C (hg19) ; chr1:g.155291898T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291898T>C , CM000663.2:g.155291898T>C	GRCh38
NC_000001.10:g.155261689T>C , CM000663.1:g.155261689T>C	GRCh37
NC_000001.9:g.153528313T>C	NCBI36
NG_011677.1:g.14537A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1476A>G MANE Select	ENSP00000339933.4:p.Ala492=
ENST00000342741.4:c.1476A>G	ENSP00000339933.4:p.Ala492=
ENST00000392414.7:c.1383A>G	ENSP00000376214.3:p.Ala461=
NM_000298.5:c.1476A>G	NP_000289.1:p.Ala492=
NM_181871.3:c.1383A>G	NP_870986.1:p.Ala461=
XM_005245266.3:c.1635A>G	XP_005245323.1:p.Ala545=
XM_006711386.2:c.1284A>G	XP_006711449.1:p.Ala428=
XM_011509640.1:c.1284A>G	XP_011507942.1:p.Ala428=
NM_000298.6:c.1476A>G MANE Select	NP_000289.1:p.Ala492=
XM_006711386.4:c.1284A>G	XP_006711449.1:p.Ala428=
XM_011509640.3:c.1284A>G	XP_011507942.1:p.Ala428=
NM_181871.4:c.1383A>G	NP_870986.1:p.Ala461=