Canonical Allele Identifier: CA400214877

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48270356A>G (hg19) ; chr17:g.50192995A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192995A>G , CM000679.2:g.50192995A>G	GRCh38
NC_000017.10:g.48270356A>G , CM000679.1:g.48270356A>G	GRCh37
NC_000017.9:g.45625355A>G	NCBI36
NG_007400.1:g.13645T>C , LRG_1:g.13645T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1820T>C MANE Select	ENSP00000225964.6:p.Val607Ala
ENST00000225964.9:c.1820T>C	ENSP00000225964.5:p.Val607Ala
ENST00000476387.1:n.169T>C
NM_000088.3:c.1820T>C , LRG_1t1:c.1820T>C	NP_000079.2:p.Val607Ala
XM_005257058.3:c.1820T>C	XP_005257115.2:p.Val607Ala
XM_005257059.3:c.958-302T>C	XP_005257116.2:n.958-302T>C
XM_011524341.1:c.1622T>C	XP_011522643.1:p.Val541Ala
XM_005257058.4:c.1820T>C	XP_005257115.2:p.Val607Ala
XM_005257059.4:c.958-302T>C	XP_005257116.2:n.958-302T>C
NM_000088.4:c.1820T>C MANE Select	NP_000079.2:p.Val607Ala