Canonical Allele Identifier: CA10618199

Gene: PROM1

Linked Data

• ClinVar Variation Id: 347995
• ClinVar RCV Id: RCV000287882 ; RCV000326558 ; RCV000327805 ; RCV000384644
• dbSNP Id: rs886059202
• MyVariant Identifiers: chr4:g.16010602A>G (hg19) ; chr4:g.16008979A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.16008979A>G , CM000666.2:g.16008979A>G	GRCh38
NC_000004.11:g.16010602A>G , CM000666.1:g.16010602A>G	GRCh37
NC_000004.10:g.15619700A>G	NCBI36
NG_011696.1:g.80022T>C
NG_011696.2:g.80081T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447510.7:c.1271T>C MANE Select	ENSP00000415481.2:p.Leu424Ser
ENST00000513946.2:c.*954T>C	ENSP00000424738.2:n.*954T>C
ENST00000539194.6:c.1271T>C	ENSP00000443620.1:p.Leu424Ser
ENST00000540805.6:c.1244T>C	ENSP00000438045.2:p.Leu415Ser
ENST00000675377.1:c.1271T>C	ENSP00000502545.1:p.Leu424Ser
ENST00000675613.1:c.1244T>C	ENSP00000501741.1:p.Leu415Ser
ENST00000447510.6:c.1271T>C	ENSP00000415481.2:p.Leu424Ser
ENST00000505450.5:c.1244T>C	ENSP00000426090.1:p.Leu415Ser
ENST00000508167.5:c.1244T>C	ENSP00000427346.1:p.Leu415Ser
ENST00000510224.5:c.1271T>C	ENSP00000426809.1:p.Leu424Ser
ENST00000511153.5:c.1329T>C
ENST00000539194.5:c.1271T>C	ENSP00000443620.1:p.Leu424Ser
ENST00000540805.5:c.1271T>C	ENSP00000438045.1:p.Leu424Ser
NM_001145847.1:c.1244T>C	NP_001139319.1:p.Leu415Ser
NM_001145848.1:c.1244T>C	NP_001139320.1:p.Leu415Ser
NM_001145849.1:c.1271T>C	NP_001139321.1:p.Leu424Ser
NM_001145850.1:c.1271T>C	NP_001139322.1:p.Leu424Ser
NM_001145851.1:c.1244T>C	NP_001139323.1:p.Leu415Ser
NM_001145852.1:c.1244T>C	NP_001139324.1:p.Leu415Ser
NM_006017.2:c.1271T>C	NP_006008.1:p.Leu424Ser
XM_005248195.3:c.1244T>C	XP_005248252.1:p.Leu415Ser
XM_005248196.3:c.1244T>C	XP_005248253.1:p.Leu415Ser
XM_006713974.2:c.1037T>C	XP_006714037.1:p.Leu346Ser
XM_011513890.1:c.1271T>C	XP_011512192.1:p.Leu424Ser
XM_011513891.1:c.1271T>C	XP_011512193.1:p.Leu424Ser
XM_011513892.1:c.1271T>C	XP_011512194.1:p.Leu424Ser
XM_011513893.1:c.1271T>C	XP_011512195.1:p.Leu424Ser
XM_011513894.1:c.1271T>C	XP_011512196.1:p.Leu424Ser
XM_011513895.1:c.1271T>C	XP_011512197.1:p.Leu424Ser
XM_011513896.1:c.1271T>C	XP_011512198.1:p.Leu424Ser
XM_011513897.1:c.1271T>C	XP_011512199.1:p.Leu424Ser
XM_011513898.1:c.1271T>C	XP_011512200.1:p.Leu424Ser
XM_011513899.1:c.1244T>C	XP_011512201.1:p.Leu415Ser
XM_011513900.1:c.1271T>C	XP_011512202.1:p.Leu424Ser
XM_011513901.1:c.1271T>C	XP_011512203.1:p.Leu424Ser
XM_011513902.1:c.1271T>C	XP_011512204.1:p.Leu424Ser
XM_011513903.1:c.1064T>C	XP_011512205.1:p.Leu355Ser
XM_011513904.1:c.998T>C	XP_011512206.1:p.Leu333Ser
XM_005248195.5:c.1244T>C	XP_005248252.1:p.Leu415Ser
XM_005248196.5:c.1244T>C	XP_005248253.1:p.Leu415Ser
XM_006713974.3:c.1037T>C	XP_006714037.1:p.Leu346Ser
XM_011513892.2:c.1271T>C	XP_011512194.1:p.Leu424Ser
XM_011513893.2:c.1271T>C	XP_011512195.1:p.Leu424Ser
XM_011513894.3:c.1271T>C	XP_011512196.1:p.Leu424Ser
XM_011513895.2:c.1271T>C	XP_011512197.1:p.Leu424Ser
XM_011513896.2:c.1271T>C	XP_011512198.1:p.Leu424Ser
XM_011513897.3:c.1271T>C	XP_011512199.1:p.Leu424Ser
XM_011513900.2:c.1271T>C	XP_011512202.1:p.Leu424Ser
XM_011513902.2:c.1271T>C	XP_011512204.1:p.Leu424Ser
XM_011513903.2:c.1064T>C	XP_011512205.1:p.Leu355Ser
XM_017008799.1:c.1244T>C	XP_016864288.1:p.Leu415Ser
XM_017008800.1:c.1271T>C	XP_016864289.1:p.Leu424Ser
XM_017008802.1:c.1271T>C	XP_016864291.1:p.Leu424Ser
XM_017008803.1:c.1244T>C	XP_016864292.1:p.Leu415Ser
XM_017008804.1:c.1244T>C	XP_016864293.1:p.Leu415Ser
XM_017008805.1:c.1244T>C	XP_016864294.1:p.Leu415Ser
XM_024454276.1:c.998T>C	XP_024310044.1:p.Leu333Ser
NM_001145847.2:c.1244T>C	NP_001139319.1:p.Leu415Ser
NM_001145848.2:c.1244T>C	NP_001139320.1:p.Leu415Ser
NM_001145849.2:c.1271T>C	NP_001139321.1:p.Leu424Ser
NM_001145850.2:c.1271T>C	NP_001139322.1:p.Leu424Ser
NM_001145851.2:c.1244T>C	NP_001139323.1:p.Leu415Ser
NM_001145852.2:c.1244T>C	NP_001139324.1:p.Leu415Ser
NM_001371406.1:c.1244T>C	NP_001358335.1:p.Leu415Ser
NM_001371407.1:c.1244T>C	NP_001358336.1:p.Leu415Ser
NM_001371408.1:c.1244T>C	NP_001358337.1:p.Leu415Ser
NM_006017.3:c.1271T>C MANE Select	NP_006008.1:p.Leu424Ser