Canonical Allele Identifier: CA772793332

Gene: COL1A1

Linked Data

• dbSNP Id: rs1190996063
• gnomAD v3: 17-50195837-T-G
• gnomAD v4: 17-50195837-T-G
• MyVariant Identifiers: chr17:g.48273198T>G (hg19) ; chr17:g.50195837T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195837T>G , CM000679.2:g.50195837T>G	GRCh38
NC_000017.10:g.48273198T>G , CM000679.1:g.48273198T>G	GRCh37
NC_000017.9:g.45628197T>G	NCBI36
NG_007400.1:g.10803A>C , LRG_1:g.10803A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.1056+86A>C MANE Select	ENSP00000225964.6:n.1056+86A>C
ENST00000225964.9:c.1056+86A>C	ENSP00000225964.5:n.1056+86A>C
NM_000088.3:c.1056+86A>C , LRG_1t1:c.1056+86A>C	NP_000079.2:n.1056+86A>C
XM_005257058.3:c.1056+86A>C	XP_005257115.2:n.1056+86A>C
XM_005257059.3:c.957+477A>C	XP_005257116.2:n.957+477A>C
XM_011524341.1:c.958-359A>C	XP_011522643.1:n.958-359A>C
XM_005257058.4:c.1056+86A>C	XP_005257115.2:n.1056+86A>C
XM_005257059.4:c.957+477A>C	XP_005257116.2:n.957+477A>C
NM_000088.4:c.1056+86A>C MANE Select	NP_000079.2:n.1056+86A>C