Canonical Allele Identifier: CA232193

Gene: ZNF541

Linked Data

• ClinVar Variation Id: 91934
• ClinVar RCV Id: RCV000122492
• dbSNP Id: rs386834267
• gnomAD v4: 19-47544921-C-T
• MyVariant Identifiers: chr19:g.48048178C>T (hg19) ; chr19:g.47544921C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47544921C>T , CM000681.2:g.47544921C>T	GRCh38
NC_000019.9:g.48048178C>T , CM000681.1:g.48048178C>T	GRCh37
NC_000019.8:g.52739990C>T	NCBI36
NG_054911.1:g.33318G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391901.8:c.1608G>A MANE Select	ENSP00000375770.3:p.Pro536=
ENST00000263351.9:c.380G>A
ENST00000314121.8:c.1608G>A	ENSP00000313258.4:p.Pro536=
ENST00000391901.7:c.1608G>A	ENSP00000375770.3:p.Pro536=
ENST00000595558.1:c.341G>A
NM_001277075.1:c.1608G>A	NP_001264004.1:p.Pro536=
XM_005259311.3:c.1608G>A	XP_005259368.1:p.Pro536=
XM_005259314.2:c.548+4324G>A	XP_005259371.1:n.548+4324G>A
XM_011527367.1:c.1623G>A	XP_011525669.1:p.Pro541=
XM_011527368.1:c.1623G>A	XP_011525670.1:p.Pro541=
XM_011527369.1:c.1623G>A	XP_011525671.1:p.Pro541=
XM_011527370.1:c.1623G>A	XP_011525672.1:p.Pro541=
XM_011527371.1:c.1623G>A	XP_011525673.1:p.Pro541=
XM_011527372.1:c.1623G>A	XP_011525674.1:p.Pro541=
XM_011527373.1:c.1623G>A	XP_011525675.1:p.Pro541=
XM_011527374.1:c.1437G>A	XP_011525676.1:p.Pro479=
XM_011527375.1:c.1623G>A	XP_011525677.1:p.Pro541=
XR_935865.1:n.2563G>A
NM_001277075.2:c.1608G>A	NP_001264004.1:p.Pro536=
XM_005259311.5:c.1608G>A	XP_005259368.1:p.Pro536=
XM_005259314.4:c.548+4324G>A	XP_005259371.1:n.548+4324G>A
XM_011527368.2:c.1623G>A	XP_011525670.1:p.Pro541=
XM_011527369.2:c.1623G>A	XP_011525671.1:p.Pro541=
XM_011527370.2:c.1623G>A	XP_011525672.1:p.Pro541=
XM_011527371.2:c.1623G>A	XP_011525673.1:p.Pro541=
XM_011527372.3:c.1623G>A	XP_011525674.1:p.Pro541=
XM_011527373.3:c.1623G>A	XP_011525675.1:p.Pro541=
XM_011527374.3:c.1437G>A	XP_011525676.1:p.Pro479=
XM_011527375.2:c.1623G>A	XP_011525677.1:p.Pro541=
XM_017027351.2:c.1623G>A	XP_016882840.1:p.Pro541=
XR_935865.3:n.2858G>A
NM_001277075.3:c.1608G>A MANE Select	NP_001264004.1:p.Pro536=