Canonical Allele Identifier: CA358642894

Gene: GLRB

Linked Data

• gnomAD v4: 4-157136848-C-T
• MyVariant Identifiers: chr4:g.158058000C>T (hg19) ; chr4:g.157136848C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.157136848C>T , CM000666.2:g.157136848C>T	GRCh38
NC_000004.11:g.158058000C>T , CM000666.1:g.158058000C>T	GRCh37
NC_000004.10:g.158277450C>T	NCBI36
NG_015823.1:g.65724C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264428.9:c.572C>T MANE Select	ENSP00000264428.4:p.Pro191Leu
ENST00000264428.8:c.572C>T	ENSP00000264428.4:p.Pro191Leu
ENST00000506411.5:c.*492C>T	ENSP00000422039.1:n.*492C>T
ENST00000509282.1:c.572C>T	ENSP00000427186.1:p.Pro191Leu
ENST00000510970.1:n.379C>T
ENST00000512619.5:c.123-33584C>T	ENSP00000425433.1:n.123-33584C>T
ENST00000541722.5:c.572C>T	ENSP00000441873.1:p.Pro191Leu
NM_000824.4:c.572C>T	NP_000815.1:p.Pro191Leu
NM_001166060.1:c.572C>T	NP_001159532.1:p.Pro191Leu
NM_001166061.1:c.572C>T	NP_001159533.1:p.Pro191Leu
XM_011531876.1:c.278C>T	XP_011530178.1:p.Pro93Leu
XM_017008034.1:c.278C>T	XP_016863523.1:p.Pro93Leu
XM_017008035.2:c.572C>T	XP_016863524.1:p.Pro191Leu
XR_001741207.2:n.753C>T
XR_002959723.1:n.753C>T
NM_000824.5:c.572C>T MANE Select	NP_000815.1:p.Pro191Leu
NM_001166060.2:c.572C>T	NP_001159532.1:p.Pro191Leu
NM_001166061.2:c.572C>T	NP_001159533.1:p.Pro191Leu