Canonical Allele Identifier: CA394885051

Gene: ABCC6

Linked Data

• dbSNP Id: rs1261137516
• gnomAD v2: 16-16263692-G-T
• gnomAD v4: 16-16169835-G-T
• MyVariant Identifiers: chr16:g.16263692G>T (hg19) ; chr16:g.16169835G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169835G>T , CM000678.2:g.16169835G>T	GRCh38
NC_000016.9:g.16263692G>T , CM000678.1:g.16263692G>T	GRCh37
NC_000016.8:g.16171193G>T	NCBI36
NG_007558.2:g.58637C>A
NG_007558.3:g.58783C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2806C>A	ENSP00000483331.2:p.Leu936Met
ENST00000205557.12:c.2806C>A MANE Select	ENSP00000205557.7:p.Leu936Met
ENST00000205557.11:c.2806C>A	ENSP00000205557.7:p.Leu936Met
ENST00000456970.6:c.2631C>A	ENSP00000405002.2:n.2631C>A
ENST00000622290.4:c.*15C>A	ENSP00000483331.1:n.*15C>A
NM_001171.5:c.2806C>A	NP_001162.4:p.Leu936Met
XM_011522479.1:c.2773C>A	XP_011520781.1:p.Leu925Met
XM_011522480.1:c.2464C>A	XP_011520782.1:p.Leu822Met
XM_011522481.1:c.2464C>A	XP_011520783.1:p.Leu822Met
XR_932836.1:n.3041C>A
XR_932837.1:n.3042C>A
XR_932838.1:n.3042C>A
NM_001351800.1:c.2464C>A	NP_001338729.1:p.Leu822Met
NR_147784.1:n.2668C>A
XM_011522479.2:c.2773C>A	XP_011520781.1:p.Leu925Met
XM_011522481.3:c.2464C>A	XP_011520783.1:p.Leu822Met
XM_017023212.1:c.2638C>A	XP_016878701.1:p.Leu880Met
XM_017023214.1:c.2806C>A	XP_016878703.1:p.Leu936Met
XM_024450261.1:c.2842C>A	XP_024306029.1:p.Leu948Met
XR_932836.2:n.2987C>A
XR_932837.3:n.2987C>A
XR_932838.3:n.2987C>A
NM_001171.6:c.2806C>A MANE Select	NP_001162.5:p.Leu936Met