Canonical Allele Identifier: CA145411

Gene: PRLR

Linked Data

• ClinVar Variation Id: 88996
• ClinVar RCV Id: RCV000074480 ; RCV003974953
• dbSNP Id: rs72478580
• ExAC: 5:35072712 T / G
• gnomAD v2: 5-35072712-T-G
• gnomAD v3: 5-35072610-T-G
• gnomAD v4: 5-35072610-T-G
• MyVariant Identifiers: chr5:g.35072712T>G (hg19) ; chr5:g.35072610T>G (hg38)
• PubMed: PMID:18779591 ; PMID:24195502

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35072610T>G , CM000667.2:g.35072610T>G	GRCh38
NC_000005.9:g.35072712T>G , CM000667.1:g.35072712T>G	GRCh37
NC_000005.8:g.35108469T>G	NCBI36
NG_029042.2:g.163112A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000618457.5:c.508A>C MANE Select	ENSP00000482954.1:p.Ile170Leu
ENST00000231423.7:c.508A>C	ENSP00000231423.3:p.Ile170Leu
ENST00000310101.9:c.508A>C	ENSP00000309008.5:p.Ile170Leu
ENST00000348262.7:c.508A>C	ENSP00000311613.3:p.Ile170Leu
ENST00000397391.7:c.*270A>C	ENSP00000380546.4:n.*270A>C
ENST00000508107.5:c.71-2345A>C	ENSP00000427236.1:n.71-2345A>C
ENST00000509140.5:c.508A>C	ENSP00000425300.2:p.Ile170Leu
ENST00000509934.1:n.436A>C
ENST00000511486.5:c.205A>C	ENSP00000422556.1:p.Ile69Leu
ENST00000513753.5:c.508A>C	ENSP00000424841.1:p.Ile170Leu
ENST00000514088.5:c.508A>C	ENSP00000422935.2:p.Ile170Leu
ENST00000542609.5:c.508A>C	ENSP00000441813.2:p.Ile170Leu
ENST00000618457.4:c.508A>C	ENSP00000482954.1:p.Ile170Leu
ENST00000618625.4:c.*270A>C	ENSP00000479077.1:n.*270A>C
ENST00000619676.4:c.508A>C	ENSP00000484768.1:p.Ile170Leu
ENST00000620785.4:c.205A>C	ENSP00000482689.1:p.Ile69Leu
NM_000949.6:c.508A>C	NP_000940.1:p.Ile170Leu
NM_001204314.2:c.205A>C	NP_001191243.1:p.Ile69Leu
NM_001204315.1:c.508A>C	NP_001191244.1:p.Ile170Leu
NM_001204316.1:c.508A>C	NP_001191245.1:p.Ile170Leu
NM_001204317.1:c.508A>C	NP_001191246.1:p.Ile170Leu
NM_001204318.1:c.508A>C	NP_001191247.1:p.Ile170Leu
NR_037910.1:n.480A>C
XM_006714484.1:c.508A>C	XP_006714547.1:p.Ile170Leu
XM_011514068.1:c.508A>C	XP_011512370.1:p.Ile170Leu
XM_011514069.1:c.508A>C	XP_011512371.1:p.Ile170Leu
XM_006714484.2:c.508A>C	XP_006714547.1:p.Ile170Leu
XM_011514068.2:c.508A>C	XP_011512370.1:p.Ile170Leu
XM_011514069.2:c.508A>C	XP_011512371.1:p.Ile170Leu
XM_017009645.1:c.295A>C	XP_016865134.1:p.Ile99Leu
XM_024446131.1:c.610A>C	XP_024301899.1:p.Ile204Leu
XM_024446132.1:c.508A>C	XP_024301900.1:p.Ile170Leu
NM_000949.7:c.508A>C MANE Select	NP_000940.1:p.Ile170Leu