Canonical Allele Identifier: CA278647884
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 433263
ClinVar RCV Id: RCV000499059
dbSNP Id: rs72653785
MyVariant Identifiers: chr16:g.16276339A>G (hg19) chr16:g.16182482A>G (hg38)
PubMed: PMID:17617515
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16182482A>G , CM000678.2:g.16182482A>G GRCh38
NC_000016.9:g.16276339A>G , CM000678.1:g.16276339A>G GRCh37
NC_000016.8:g.16183840A>G NCBI36
NG_007558.2:g.45990T>C
NG_007558.3:g.46136T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000622290.5:c.2177T>C ENSP00000483331.2:p.Leu726Pro
ENST00000205557.12:c.2177T>C MANE Select ENSP00000205557.7:p.Leu726Pro
ENST00000205557.11:c.2177T>C ENSP00000205557.7:p.Leu726Pro
ENST00000456970.6:c.2177T>C ENSP00000405002.2:p.Leu726Pro
ENST00000574094.5:n.2040-557T>C
ENST00000622290.4:c.2177T>C ENSP00000483331.1:p.Leu726Pro
NM_001171.5:c.2177T>C NP_001162.4:p.Leu726Pro
XM_011522479.1:c.2177T>C XP_011520781.1:p.Leu726Pro
XM_011522480.1:c.1835T>C XP_011520782.1:p.Leu612Pro
XM_011522481.1:c.1835T>C XP_011520783.1:p.Leu612Pro
XM_011522482.1:c.2177T>C XP_011520784.1:p.Leu726Pro
XR_932836.1:n.2412T>C
XR_932837.1:n.2413T>C
XR_932838.1:n.2413T>C
NM_001351800.1:c.1835T>C NP_001338729.1:p.Leu612Pro
NR_147784.1:n.2214T>C
XM_011522479.2:c.2177T>C XP_011520781.1:p.Leu726Pro
XM_011522481.3:c.1835T>C XP_011520783.1:p.Leu612Pro
XM_011522482.3:c.2177T>C XP_011520784.1:p.Leu726Pro
XM_017023212.1:c.2177T>C XP_016878701.1:p.Leu726Pro
XM_017023214.1:c.2177T>C XP_016878703.1:p.Leu726Pro
XM_024450261.1:c.2213T>C XP_024306029.1:p.Leu738Pro
XR_932836.2:n.2358T>C
XR_932837.3:n.2358T>C
XR_932838.3:n.2358T>C
NM_001171.6:c.2177T>C MANE Select NP_001162.5:p.Leu726Pro
Search 100 bp 5'
Search 100 bp 3'