Canonical Allele Identifier: CA984451758

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907564567
• gnomAD v3: 17-50196134-A-G
• gnomAD v4: 17-50196134-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196134A>G , CM000679.2:g.50196134A>G	GRCh38
NC_000017.10:g.48273495A>G , CM000679.1:g.48273495A>G	GRCh37
NC_000017.9:g.45628494A>G	NCBI36
NG_007400.1:g.10506T>C , LRG_1:g.10506T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1002+21T>C MANE Select	ENSP00000225964.6:n.1002+21T>C
ENST00000225964.9:c.1002+21T>C	ENSP00000225964.5:n.1002+21T>C
ENST00000485870.1:n.348T>C
NM_000088.3:c.1002+21T>C , LRG_1t1:c.1002+21T>C	NP_000079.2:n.1002+21T>C
XM_005257058.3:c.1002+21T>C	XP_005257115.2:n.1002+21T>C
XM_005257059.3:c.957+180T>C	XP_005257116.2:n.957+180T>C
XM_011524341.1:c.957+180T>C	XP_011522643.1:n.957+180T>C
XM_005257058.4:c.1002+21T>C	XP_005257115.2:n.1002+21T>C
XM_005257059.4:c.957+180T>C	XP_005257116.2:n.957+180T>C
NM_000088.4:c.1002+21T>C MANE Select	NP_000079.2:n.1002+21T>C