Canonical Allele Identifier: CA342748666

Gene: PKLR

Linked Data

• dbSNP Id: rs1169315216
• gnomAD v2: 1-155260465-C-A
• gnomAD v4: 1-155290674-C-A
• MyVariant Identifiers: chr1:g.155260465C>A (hg19) ; chr1:g.155290674C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290674C>A , CM000663.2:g.155290674C>A	GRCh38
NC_000001.10:g.155260465C>A , CM000663.1:g.155260465C>A	GRCh37
NC_000001.9:g.153527089C>A	NCBI36
NG_011677.1:g.15761G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1623G>T MANE Select	ENSP00000339933.4:p.Lys541Asn
ENST00000342741.4:c.1623G>T	ENSP00000339933.4:p.Lys541Asn
ENST00000392414.7:c.1530G>T	ENSP00000376214.3:p.Lys510Asn
NM_000298.5:c.1623G>T	NP_000289.1:p.Lys541Asn
NM_181871.3:c.1530G>T	NP_870986.1:p.Lys510Asn
XM_005245266.3:c.1782G>T	XP_005245323.1:p.Lys594Asn
XM_006711386.2:c.1431G>T	XP_006711449.1:p.Lys477Asn
XM_011509640.1:c.1431G>T	XP_011507942.1:p.Lys477Asn
NM_000298.6:c.1623G>T MANE Select	NP_000289.1:p.Lys541Asn
XM_006711386.4:c.1431G>T	XP_006711449.1:p.Lys477Asn
XM_011509640.3:c.1431G>T	XP_011507942.1:p.Lys477Asn
NM_181871.4:c.1530G>T	NP_870986.1:p.Lys510Asn