Canonical Allele Identifier: CA112981073
Gene: LPCAT1 HGNC NCBI

Linked Data

dbSNP Id: rs534874952
gnomAD v2: 5-1518407-T-C
gnomAD v3: 5-1518292-T-C
gnomAD v4: 5-1518292-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1518292T>C , CM000667.2:g.1518292T>C GRCh38
NC_000005.9:g.1518407T>C , CM000667.1:g.1518407T>C GRCh37
NC_000005.8:g.1571407T>C NCBI36
NG_051622.1:g.10686A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000283415.4:c.135+5418A>G MANE Select ENSP00000283415.3:n.135+5418A>G
ENST00000283415.3:c.135+5418A>G ENSP00000283415.3:n.135+5418A>G
ENST00000475622.5:c.135+5418A>G ENSP00000423472.1:n.135+5418A>G
ENST00000514484.6:n.165+3055A>G
NM_024830.3:c.135+5418A>G NP_079106.3:n.135+5418A>G
XM_005248373.2:c.-10+3055A>G XP_005248430.1:n.-10+3055A>G
XM_011514133.1:c.201+7223A>G XP_011512435.1:n.201+7223A>G
NM_024830.4:c.135+5418A>G NP_079106.3:n.135+5418A>G
XM_005248373.3:c.-10+3055A>G XP_005248430.1:n.-10+3055A>G
NM_024830.5:c.135+5418A>G MANE Select NP_079106.3:n.135+5418A>G