Canonical Allele Identifier: CA352000159

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33038629C>A (hg19) ; chr3:g.32997137C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997137C>A , CM000665.2:g.32997137C>A	GRCh38
NC_000003.11:g.33038629C>A , CM000665.1:g.33038629C>A	GRCh37
NC_000003.10:g.33013633C>A	NCBI36
NG_009005.1:g.105066G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1942G>T MANE Select	ENSP00000306920.4:p.Val648Leu
ENST00000307363.9:c.1942G>T	ENSP00000306920.4:p.Val648Leu
ENST00000307377.12:c.1549G>T	ENSP00000305920.8:p.Val517Leu
ENST00000399402.7:c.1852G>T	ENSP00000382333.2:p.Val618Leu
NM_000404.2:c.1942G>T	NP_000395.2:p.Val648Leu
NM_000404.3:c.1942G>T	NP_000395.2:p.Val648Leu
NM_001079811.1:c.1852G>T	NP_001073279.1:p.Val618Leu
NM_001079811.2:c.1852G>T	NP_001073279.1:p.Val618Leu
NM_001135602.1:c.1549G>T	NP_001129074.1:p.Val517Leu
NM_001135602.2:c.1549G>T	NP_001129074.1:p.Val517Leu
NM_001317040.1:c.2086G>T	NP_001303969.1:p.Val696Leu
NM_000404.4:c.1942G>T MANE Select	NP_000395.3:p.Val648Leu
NM_001079811.3:c.1852G>T	NP_001073279.2:p.Val618Leu
NM_001135602.3:c.1549G>T	NP_001129074.2:p.Val517Leu
NM_001317040.2:c.2086G>T	NP_001303969.2:p.Val696Leu
NM_001393580.1:c.1734+16919G>T	NP_001380509.1:n.1734+16919G>T