Canonical Allele Identifier: CA112981063

Gene: LPCAT1

Linked Data

• dbSNP Id: rs934438595
• gnomAD v2: 5-1518404-A-G
• gnomAD v3: 5-1518289-A-G
• gnomAD v4: 5-1518289-A-G
• MyVariant Identifiers: chr5:g.1518404A>G (hg19) ; chr5:g.1518289A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1518289A>G , CM000667.2:g.1518289A>G	GRCh38
NC_000005.9:g.1518404A>G , CM000667.1:g.1518404A>G	GRCh37
NC_000005.8:g.1571404A>G	NCBI36
NG_051622.1:g.10689T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000283415.4:c.135+5421T>C MANE Select	ENSP00000283415.3:n.135+5421T>C
ENST00000283415.3:c.135+5421T>C	ENSP00000283415.3:n.135+5421T>C
ENST00000475622.5:c.135+5421T>C	ENSP00000423472.1:n.135+5421T>C
ENST00000514484.6:n.165+3058T>C
NM_024830.3:c.135+5421T>C	NP_079106.3:n.135+5421T>C
XM_005248373.2:c.-10+3058T>C	XP_005248430.1:n.-10+3058T>C
XM_011514133.1:c.201+7226T>C	XP_011512435.1:n.201+7226T>C
NM_024830.4:c.135+5421T>C	NP_079106.3:n.135+5421T>C
XM_005248373.3:c.-10+3058T>C	XP_005248430.1:n.-10+3058T>C
NM_024830.5:c.135+5421T>C MANE Select	NP_079106.3:n.135+5421T>C