Canonical Allele Identifier: CA8645257

Gene: COL1A1

Linked Data

• dbSNP Id: rs759860567
• ExAC: 17:48272104 A / G
• gnomAD v2: 17-48272104-A-G
• gnomAD v4: 17-50194743-A-G
• MyVariant Identifiers: chr17:g.48272104A>G (hg19) ; chr17:g.50194743A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194743A>G , CM000679.2:g.50194743A>G	GRCh38
NC_000017.10:g.48272104A>G , CM000679.1:g.48272104A>G	GRCh37
NC_000017.9:g.45627103A>G	NCBI36
NG_007400.1:g.11897T>C , LRG_1:g.11897T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1439T>C MANE Select	ENSP00000225964.6:p.Leu480Pro
ENST00000225964.9:c.1439T>C	ENSP00000225964.5:p.Leu480Pro
ENST00000471344.1:n.383T>C
NM_000088.3:c.1439T>C , LRG_1t1:c.1439T>C	NP_000079.2:p.Leu480Pro
XM_005257058.3:c.1439T>C	XP_005257115.2:p.Leu480Pro
XM_005257059.3:c.957+1571T>C	XP_005257116.2:n.957+1571T>C
XM_011524341.1:c.1241T>C	XP_011522643.1:p.Leu414Pro
XM_005257058.4:c.1439T>C	XP_005257115.2:p.Leu480Pro
XM_005257059.4:c.957+1571T>C	XP_005257116.2:n.957+1571T>C
NM_000088.4:c.1439T>C MANE Select	NP_000079.2:p.Leu480Pro