Canonical Allele Identifier: CA666624

Gene: ALPL

Linked Data

• ClinVar Variation Id: 2671815
• ClinVar RCV Id: RCV003448897
• dbSNP Id: rs751625937
• ExAC: 1:21896807 T / C
• gnomAD v2: 1-21896807-T-C
• gnomAD v3: 1-21570314-T-C
• gnomAD v4: 1-21570314-T-C
• MyVariant Identifiers: chr1:g.21896807T>C (hg19) ; chr1:g.21570314T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21570314T>C , CM000663.2:g.21570314T>C	GRCh38
NC_000001.10:g.21896807T>C , CM000663.1:g.21896807T>C	GRCh37
NC_000001.9:g.21769394T>C	NCBI36
NG_008940.1:g.65950T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.802T>C MANE Select	ENSP00000363973.3:p.Phe268Leu
ENST00000374830.2:c.12T>C
ENST00000374832.5:c.802T>C	ENSP00000363965.1:p.Phe268Leu
ENST00000374840.7:c.802T>C	ENSP00000363973.3:p.Phe268Leu
ENST00000539907.5:c.571T>C	ENSP00000437674.1:p.Phe191Leu
ENST00000540617.5:c.637T>C	ENSP00000442672.1:p.Phe213Leu
NM_000478.4:c.802T>C	NP_000469.3:p.Phe268Leu
NM_001127501.2:c.637T>C	NP_001120973.2:p.Phe213Leu
NM_001177520.1:c.571T>C	NP_001170991.1:p.Phe191Leu
XM_005245818.1:c.802T>C	XP_005245875.1:p.Phe268Leu
XM_005245820.2:c.802T>C	XP_005245877.1:p.Phe268Leu
XM_006710546.1:c.802T>C	XP_006710609.1:p.Phe268Leu
NM_000478.5:c.802T>C	NP_000469.3:p.Phe268Leu
NM_001127501.3:c.637T>C	NP_001120973.2:p.Phe213Leu
NM_001177520.2:c.571T>C	NP_001170991.1:p.Phe191Leu
XM_006710546.3:c.802T>C	XP_006710609.1:p.Phe268Leu
XM_017000903.1:c.646T>C	XP_016856392.1:p.Phe216Leu
NM_000478.6:c.802T>C MANE Select	NP_000469.3:p.Phe268Leu
NM_001127501.4:c.637T>C	NP_001120973.2:p.Phe213Leu
NM_001177520.3:c.571T>C	NP_001170991.1:p.Phe191Leu
NM_001369803.2:c.802T>C	NP_001356732.1:p.Phe268Leu
NM_001369804.2:c.802T>C	NP_001356733.1:p.Phe268Leu
NM_001369805.2:c.802T>C	NP_001356734.1:p.Phe268Leu