Canonical Allele Identifier: CA1620929402

Gene: TULP1

Linked Data

• dbSNP Id: rs1768814028
• gnomAD v3: 6-35500393-G-GGGCAT
• gnomAD v4: 6-35500393-G-GGGCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500394_35500398dup , CM000668.2:g.35500394_35500398dup	GRCh38
NC_000006.11:g.35468171_35468175dup , CM000668.1:g.35468171_35468175dup	GRCh37
NC_000006.10:g.35576149_35576153dup	NCBI36
NG_009077.1:g.17473_17477dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1324-246_1324-242dup MANE Select	ENSP00000229771.6:n.1324-246_1324-242dup
ENST00000229771.10:c.1324-246_1324-242dup	ENSP00000229771.6:n.1324-246_1324-242dup
ENST00000322263.8:c.1165-246_1165-242dup	ENSP00000319414.4:n.1165-246_1165-242dup
ENST00000495781.1:n.500-246_500-242dup
ENST00000614066.4:c.1318-246_1318-242dup	ENSP00000477534.1:n.1318-246_1318-242dup
NM_001289395.1:c.1165-246_1165-242dup	NP_001276324.1:n.1165-246_1165-242dup
NM_003322.4:c.1324-246_1324-242dup	NP_003313.3:n.1324-246_1324-242dup
NM_003322.5:c.1324-246_1324-242dup	NP_003313.3:n.1324-246_1324-242dup
NM_003322.6:c.1324-246_1324-242dup MANE Select	NP_003313.3:n.1324-246_1324-242dup
NM_001289395.2:c.1165-246_1165-242dup	NP_001276324.1:n.1165-246_1165-242dup