Canonical Allele Identifier: CA388592695

Gene: FARP1 STK24

Linked Data

• ClinVar Variation Id: 2488030
• ClinVar RCV Id: RCV004275629
• gnomAD v4: 13-98448268-C-T
• MyVariant Identifiers: chr13:g.99100522C>T (hg19) ; chr13:g.98448268C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.98448268C>T , CM000675.2:g.98448268C>T	GRCh38
NC_000013.10:g.99100522C>T , CM000675.1:g.99100522C>T	GRCh37
NC_000013.9:g.97898523C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319562.11:c.3089C>T (FARP1) MANE Select	ENSP00000322926.6:p.Ser1030Phe
ENST00000539966.6:c.*4905G>A (STK24) MANE Select	ENSP00000442539.2:n.*4905G>A
ENST00000319562.10:c.3089C>T (FARP1)	ENSP00000322926.6:p.Ser1030Phe
ENST00000539966.5:c.*4905G>A (STK24)	ENSP00000442539.2:n.*4905G>A
ENST00000595437.5:c.3182C>T (FARP1)	ENSP00000471242.1:p.Ser1061Phe
ENST00000627049.2:c.3182C>T (FARP1)	ENSP00000486285.1:p.Ser1061Phe
NM_001286839.1:c.3182C>T (FARP1)	NP_001273768.1:p.Ser1061Phe
NM_005766.3:c.3089C>T (FARP1)	NP_005757.1:p.Ser1030Phe
XM_011521046.1:c.3182C>T (FARP1)	XP_011519348.1:p.Ser1061Phe
XM_011521046.2:c.3182C>T (FARP1)	XP_011519348.1:p.Ser1061Phe
XM_017020312.1:c.3089C>T (FARP1)	XP_016875801.1:p.Ser1030Phe
XM_017020313.2:c.3029C>T (FARP1)	XP_016875802.1:p.Ser1010Phe
NM_001286839.2:c.3182C>T (FARP1)	NP_001273768.1:p.Ser1061Phe
NM_005766.4:c.3089C>T (FARP1) MANE Select	NP_005757.1:p.Ser1030Phe
NM_001032296.4:c.*4905G>A (STK24) MANE Select	NP_001027467.2:n.*4905G>A
NM_001286649.2:c.*4905G>A (STK24)	NP_001273578.1:n.*4905G>A
NM_003576.5:c.*4905G>A (STK24)	NP_003567.2:n.*4905G>A