Canonical Allele Identifier: CA3772882

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35509887C>G , CM000668.2:g.35509887C>G	GRCh38
NC_000006.11:g.35477664C>G , CM000668.1:g.35477664C>G	GRCh37
NC_000006.10:g.35585642C>G	NCBI36
NG_009077.1:g.7984G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003322.6:c.541G>C MANE Select	NP_003313.3:p.Val181Leu
ENST00000229771.11:c.541G>C MANE Select	ENSP00000229771.6:p.Val181Leu
NM_001289395.1:c.382G>C	NP_001276324.1:p.Val128Leu
NM_001289395.2:c.382G>C	NP_001276324.1:p.Val128Leu
NM_003322.4:c.541G>C	NP_003313.3:p.Val181Leu
NM_003322.5:c.541G>C	NP_003313.3:p.Val181Leu
ENST00000229771.10:c.541G>C	ENSP00000229771.6:p.Val181Leu
ENST00000322263.8:c.382G>C	ENSP00000319414.4:p.Val128Leu
ENST00000373892.4:n.321-575G>C
ENST00000428978.1:c.397G>C	ENSP00000406765.1:p.Val133Leu
ENST00000614066.4:c.541G>C	ENSP00000477534.1:p.Val181Leu