Canonical Allele Identifier: CA400191279

Gene: COL1A1

Linked Data

• dbSNP Id: rs1906452805
• gnomAD v4: 17-50185791-A-G
• MyVariant Identifiers: chr17:g.48263152A>G (hg19) ; chr17:g.50185791A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185791A>G , CM000679.2:g.50185791A>G	GRCh38
NC_000017.10:g.48263152A>G , CM000679.1:g.48263152A>G	GRCh37
NC_000017.9:g.45618151A>G	NCBI36
NG_007400.1:g.20849T>C , LRG_1:g.20849T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4235T>C MANE Select	ENSP00000225964.6:p.Val1412Ala
ENST00000225964.9:c.4235T>C	ENSP00000225964.5:p.Val1412Ala
NM_000088.3:c.4235T>C , LRG_1t1:c.4235T>C	NP_000079.2:p.Val1412Ala
XM_005257058.3:c.3965T>C	XP_005257115.2:p.Val1322Ala
XM_005257059.3:c.3317T>C	XP_005257116.2:p.Val1106Ala
XM_011524341.1:c.4037T>C	XP_011522643.1:p.Val1346Ala
XM_005257058.4:c.3965T>C	XP_005257115.2:p.Val1322Ala
XM_005257059.4:c.3317T>C	XP_005257116.2:p.Val1106Ala
NM_000088.4:c.4235T>C MANE Select	NP_000079.2:p.Val1412Ala