Canonical Allele Identifier: CA394885117

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16169850-T-A
• MyVariant Identifiers: chr16:g.16263707T>A (hg19) ; chr16:g.16169850T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169850T>A , CM000678.2:g.16169850T>A	GRCh38
NC_000016.9:g.16263707T>A , CM000678.1:g.16263707T>A	GRCh37
NC_000016.8:g.16171208T>A	NCBI36
NG_007558.2:g.58622A>T
NG_007558.3:g.58768A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2791A>T	ENSP00000483331.2:p.Lys931Ter
ENST00000205557.12:c.2791A>T MANE Select	ENSP00000205557.7:p.Lys931Ter
ENST00000205557.11:c.2791A>T	ENSP00000205557.7:p.Lys931Ter
ENST00000456970.6:c.2616A>T	ENSP00000405002.2:p.Ter872Cys
ENST00000622290.4:c.2616A>T	ENSP00000483331.1:p.Ter872Cys
NM_001171.5:c.2791A>T	NP_001162.4:p.Lys931Ter
XM_011522479.1:c.2758A>T	XP_011520781.1:p.Lys920Ter
XM_011522480.1:c.2449A>T	XP_011520782.1:p.Lys817Ter
XM_011522481.1:c.2449A>T	XP_011520783.1:p.Lys817Ter
XR_932836.1:n.3026A>T
XR_932837.1:n.3027A>T
XR_932838.1:n.3027A>T
NM_001351800.1:c.2449A>T	NP_001338729.1:p.Lys817Ter
NR_147784.1:n.2653A>T
XM_011522479.2:c.2758A>T	XP_011520781.1:p.Lys920Ter
XM_011522481.3:c.2449A>T	XP_011520783.1:p.Lys817Ter
XM_017023212.1:c.2623A>T	XP_016878701.1:p.Lys875Ter
XM_017023214.1:c.2791A>T	XP_016878703.1:p.Lys931Ter
XM_024450261.1:c.2827A>T	XP_024306029.1:p.Lys943Ter
XR_932836.2:n.2972A>T
XR_932837.3:n.2972A>T
XR_932838.3:n.2972A>T
NM_001171.6:c.2791A>T MANE Select	NP_001162.5:p.Lys931Ter