Canonical Allele Identifier: CA342748717

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155260471T>C (hg19) ; chr1:g.155290680T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290680T>C , CM000663.2:g.155290680T>C	GRCh38
NC_000001.10:g.155260471T>C , CM000663.1:g.155260471T>C	GRCh37
NC_000001.9:g.153527095T>C	NCBI36
NG_011677.1:g.15755A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1619-2A>G MANE Select	ENSP00000339933.4:n.1619-2A>G
ENST00000342741.4:c.1619-2A>G	ENSP00000339933.4:n.1619-2A>G
ENST00000392414.7:c.1526-2A>G	ENSP00000376214.3:n.1526-2A>G
NM_000298.5:c.1619-2A>G	NP_000289.1:n.1619-2A>G
NM_181871.3:c.1526-2A>G	NP_870986.1:n.1526-2A>G
XM_005245266.3:c.1778-2A>G	XP_005245323.1:n.1778-2A>G
XM_006711386.2:c.1427-2A>G	XP_006711449.1:n.1427-2A>G
XM_011509640.1:c.1427-2A>G	XP_011507942.1:n.1427-2A>G
NM_000298.6:c.1619-2A>G MANE Select	NP_000289.1:n.1619-2A>G
XM_006711386.4:c.1427-2A>G	XP_006711449.1:n.1427-2A>G
XM_011509640.3:c.1427-2A>G	XP_011507942.1:n.1427-2A>G
NM_181871.4:c.1526-2A>G	NP_870986.1:n.1526-2A>G