Canonical Allele Identifier: CA353184688

Gene: STAB1

Linked Data

• dbSNP Id: rs1383680145
• gnomAD v2: 3-52540820-C-T
• MyVariant Identifiers: chr3:g.52540820C>T (hg19) ; chr3:g.52506804C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52506804C>T , CM000665.2:g.52506804C>T	GRCh38
NC_000003.11:g.52540820C>T , CM000665.1:g.52540820C>T	GRCh37
NC_000003.10:g.52515860C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321725.10:c.1943C>T MANE Select	ENSP00000312946.6:p.Pro648Leu
ENST00000481607.1:n.1998C>T
NM_015136.2:c.1943C>T	NP_055951.2:p.Pro648Leu
XM_005264973.2:c.1943C>T	XP_005265030.1:p.Pro648Leu
XM_005264974.2:c.1943C>T	XP_005265031.1:p.Pro648Leu
XM_005264975.2:c.1943C>T	XP_005265032.1:p.Pro648Leu
XM_006713065.1:c.1943C>T	XP_006713128.1:p.Pro648Leu
XM_011533528.1:c.1943C>T	XP_011531830.1:p.Pro648Leu
XR_940395.1:n.2019C>T
XM_005264973.3:c.1943C>T	XP_005265030.1:p.Pro648Leu
XM_017005998.1:c.1943C>T	XP_016861487.1:p.Pro648Leu
XM_017005999.1:c.1943C>T	XP_016861488.1:p.Pro648Leu
XM_017006000.1:c.1943C>T	XP_016861489.1:p.Pro648Leu
XM_017006001.1:c.1943C>T	XP_016861490.1:p.Pro648Leu
XM_017006002.1:c.1943C>T	XP_016861491.1:p.Pro648Leu
XM_017006003.1:c.1943C>T	XP_016861492.1:p.Pro648Leu
XM_017006004.2:c.1943C>T	XP_016861493.1:p.Pro648Leu
XR_001740064.1:n.2019C>T
NM_015136.3:c.1943C>T MANE Select	NP_055951.2:p.Pro648Leu