Canonical Allele Identifier: CA1144327

Gene: PKLR

Linked Data

• dbSNP Id: rs759323460
• ExAC: 1:155265235 A / G
• gnomAD v2: 1-155265235-A-G
• gnomAD v3: 1-155295444-A-G
• gnomAD v4: 1-155295444-A-G
• MyVariant Identifiers: chr1:g.155265235A>G (hg19) ; chr1:g.155295444A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295444A>G , CM000663.2:g.155295444A>G	GRCh38
NC_000001.10:g.155265235A>G , CM000663.1:g.155265235A>G	GRCh37
NC_000001.9:g.153531859A>G	NCBI36
NG_011677.1:g.10991T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.500T>C MANE Select	ENSP00000339933.4:p.Leu167Pro
ENST00000434082.3:c.308T>C	ENSP00000398037.3:p.Leu103Pro
ENST00000342741.4:c.500T>C	ENSP00000339933.4:p.Leu167Pro
ENST00000392414.7:c.407T>C	ENSP00000376214.3:p.Leu136Pro
ENST00000434082.2:c.405T>C	ENSP00000398037.2:n.405T>C
NM_000298.5:c.500T>C	NP_000289.1:p.Leu167Pro
NM_181871.3:c.407T>C	NP_870986.1:p.Leu136Pro
XM_005245266.3:c.659T>C	XP_005245323.1:p.Leu220Pro
XM_006711386.2:c.308T>C	XP_006711449.1:p.Leu103Pro
XM_011509639.1:c.659T>C	XP_011507941.1:p.Leu220Pro
XM_011509640.1:c.308T>C	XP_011507942.1:p.Leu103Pro
NM_000298.6:c.500T>C MANE Select	NP_000289.1:p.Leu167Pro
XM_006711386.4:c.308T>C	XP_006711449.1:p.Leu103Pro
XM_011509640.3:c.308T>C	XP_011507942.1:p.Leu103Pro
XM_017001493.1:c.500T>C	XP_016856982.1:p.Leu167Pro
NM_181871.4:c.407T>C	NP_870986.1:p.Leu136Pro