Canonical Allele Identifier: CA394883479

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1315187
• ClinVar RCV Id: RCV001773381
• dbSNP Id: rs2152206685
• MyVariant Identifiers: chr16:g.16244015A>G (hg19) ; chr16:g.16150158A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150158A>G , CM000678.2:g.16150158A>G	GRCh38
NC_000016.9:g.16244015A>G , CM000678.1:g.16244015A>G	GRCh37
NC_000016.8:g.16151516A>G	NCBI36
NG_007558.2:g.78314T>C
NG_007558.3:g.78460T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*659T>C	ENSP00000483331.2:n.*659T>C
ENST00000205557.12:c.4487T>C MANE Select	ENSP00000205557.7:p.Leu1496Pro
ENST00000640696.1:c.1301T>C	ENSP00000492197.1:p.Leu434Pro
ENST00000205557.11:c.4487T>C	ENSP00000205557.7:p.Leu1496Pro
ENST00000456970.6:c.4112T>C	ENSP00000405002.2:n.4112T>C
ENST00000576204.5:n.1350T>C
ENST00000622290.4:c.*1696T>C	ENSP00000483331.1:n.*1696T>C
NM_001171.5:c.4487T>C	NP_001162.4:p.Leu1496Pro
XM_011522479.1:c.4454T>C	XP_011520781.1:p.Leu1485Pro
XM_011522480.1:c.4145T>C	XP_011520782.1:p.Leu1382Pro
XM_011522481.1:c.4145T>C	XP_011520783.1:p.Leu1382Pro
XR_933134.1:n.538+5868A>G
NM_001351800.1:c.4145T>C	NP_001338729.1:p.Leu1382Pro
NR_147784.1:n.4149T>C
XM_011522479.2:c.4454T>C	XP_011520781.1:p.Leu1485Pro
XM_011522481.3:c.4145T>C	XP_011520783.1:p.Leu1382Pro
XM_017023212.1:c.4319T>C	XP_016878701.1:p.Leu1440Pro
XM_024450261.1:c.4523T>C	XP_024306029.1:p.Leu1508Pro
NM_001171.6:c.4487T>C MANE Select	NP_001162.5:p.Leu1496Pro