Canonical Allele Identifier: CA356811645

Gene: GABRB1

Linked Data

• COSMIC: COSM335207
• MyVariant Identifiers: chr4:g.47408824C>A (hg19) ; chr4:g.47406807C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406807C>A , CM000666.2:g.47406807C>A	GRCh38
NC_000004.11:g.47408824C>A , CM000666.1:g.47408824C>A	GRCh37
NC_000004.10:g.47103581C>A	NCBI36
NG_051831.1:g.380530C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.961C>A MANE Select	ENSP00000295454.3:p.Leu321Met
ENST00000295454.7:c.961C>A	ENSP00000295454.3:p.Leu321Met
NM_000812.3:c.961C>A	NP_000803.2:p.Leu321Met
XM_011513678.1:c.940C>A	XP_011511980.1:p.Leu314Met
XM_017007985.1:c.310C>A	XP_016863474.1:p.Leu104Met
XM_024453976.1:c.862C>A	XP_024309744.1:p.Leu288Met
XM_024453977.1:c.862C>A	XP_024309745.1:p.Leu288Met
XM_024453978.1:c.862C>A	XP_024309746.1:p.Leu288Met
NM_000812.4:c.961C>A MANE Select	NP_000803.2:p.Leu321Met