Canonical Allele Identifier: CA8644544

Gene: COL1A1

Linked Data

• dbSNP Id: rs766795631
• ExAC: 17:48265893 T / G
• gnomAD v2: 17-48265893-T-G
• gnomAD v4: 17-50188532-T-G
• MyVariant Identifiers: chr17:g.48265893T>G (hg19) ; chr17:g.50188532T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188532T>G , CM000679.2:g.50188532T>G	GRCh38
NC_000017.10:g.48265893T>G , CM000679.1:g.48265893T>G	GRCh37
NC_000017.9:g.45620892T>G	NCBI36
NG_007400.1:g.18108A>C , LRG_1:g.18108A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3205A>C MANE Select	ENSP00000225964.6:p.Thr1069Pro
ENST00000225964.9:c.3205A>C	ENSP00000225964.5:p.Thr1069Pro
ENST00000486572.1:n.23A>C
ENST00000511732.1:n.149A>C
NM_000088.3:c.3205A>C , LRG_1t1:c.3205A>C	NP_000079.2:p.Thr1069Pro
XM_005257058.3:c.2935A>C	XP_005257115.2:p.Thr979Pro
XM_005257059.3:c.2287A>C	XP_005257116.2:p.Thr763Pro
XM_011524341.1:c.3007A>C	XP_011522643.1:p.Thr1003Pro
XM_005257058.4:c.2935A>C	XP_005257115.2:p.Thr979Pro
XM_005257059.4:c.2287A>C	XP_005257116.2:p.Thr763Pro
NM_000088.4:c.3205A>C MANE Select	NP_000079.2:p.Thr1069Pro