Canonical Allele Identifier: CA566703217

Gene: TULP1

Linked Data

• ClinVar Variation Id: 2749029
• ClinVar RCV Id: RCV003566270
• dbSNP Id: rs761418157
• gnomAD v2: 6-35467948-G-A
• gnomAD v4: 6-35500171-G-A
• MyVariant Identifiers: chr6:g.35467948G>A (hg19) ; chr6:g.35500171G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500171G>A , CM000668.2:g.35500171G>A	GRCh38
NC_000006.11:g.35467948G>A , CM000668.1:g.35467948G>A	GRCh37
NC_000006.10:g.35575926G>A	NCBI36
NG_009077.1:g.17700C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1324-19C>T MANE Select	ENSP00000229771.6:n.1324-19C>T
ENST00000229771.10:c.1324-19C>T	ENSP00000229771.6:n.1324-19C>T
ENST00000322263.8:c.1165-19C>T	ENSP00000319414.4:n.1165-19C>T
ENST00000495781.1:n.500-19C>T
ENST00000614066.4:c.1318-19C>T	ENSP00000477534.1:n.1318-19C>T
NM_001289395.1:c.1165-19C>T	NP_001276324.1:n.1165-19C>T
NM_003322.4:c.1324-19C>T	NP_003313.3:n.1324-19C>T
NM_003322.5:c.1324-19C>T	NP_003313.3:n.1324-19C>T
NM_003322.6:c.1324-19C>T MANE Select	NP_003313.3:n.1324-19C>T
NM_001289395.2:c.1165-19C>T	NP_001276324.1:n.1165-19C>T